SUSPENSION NOTICE:2024-08-07T19:00:00-0500 — 2024-09-25T08:00:00-0500
New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks.
This allows us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.
New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks.
This allows us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.37020586C>A | CA359486973 | NIPBL | c.5138C>A (p.Thr1713Asn) c.1-43992C>A (n.1-43992C>A) c.4394C>A (p.Thr1465Asn) c.4940C>A (p.Thr1647Asn) c.4757C>A (p.Thr1586Asn) c.4478C>A (p.Thr1493Asn) c.3521C>A (p.Thr1174Asn) c.3512C>A (p.Thr1171Asn) | |
| 5 | g.37020586C>G | CA359486975 | NIPBL | c.5138C>G (p.Thr1713Ser) c.1-43992C>G (n.1-43992C>G) c.4394C>G (p.Thr1465Ser) c.4940C>G (p.Thr1647Ser) c.4757C>G (p.Thr1586Ser) c.4478C>G (p.Thr1493Ser) c.3521C>G (p.Thr1174Ser) c.3512C>G (p.Thr1171Ser) | |
| 5 | g.37020586C>T | CA359486978 | NIPBL | c.5138C>T (p.Thr1713Ile) c.1-43992C>T (n.1-43992C>T) c.4394C>T (p.Thr1465Ile) c.4940C>T (p.Thr1647Ile) c.4757C>T (p.Thr1586Ile) c.4478C>T (p.Thr1493Ile) c.3521C>T (p.Thr1174Ile) c.3512C>T (p.Thr1171Ile) | gnomAD v4 |
| 5 | g.37020587T>A | CA443905019 | NIPBL | c.5139T>A (p.Thr1713=) c.1-43991T>A (n.1-43991T>A) c.4395T>A (p.Thr1465=) c.4941T>A (p.Thr1647=) c.4758T>A (p.Thr1586=) c.4479T>A (p.Thr1493=) c.3522T>A (p.Thr1174=) c.3513T>A (p.Thr1171=) | |
| 5 | g.37020587T>C | CA443905021 | NIPBL | c.5139T>C (p.Thr1713=) c.1-43991T>C (n.1-43991T>C) c.4395T>C (p.Thr1465=) c.4941T>C (p.Thr1647=) c.4758T>C (p.Thr1586=) c.4479T>C (p.Thr1493=) c.3522T>C (p.Thr1174=) c.3513T>C (p.Thr1171=) | |
| 5 | g.37020587T>G | CA443905020 | NIPBL | c.5139T>G (p.Thr1713=) c.1-43991T>G (n.1-43991T>G) c.4395T>G (p.Thr1465=) c.4941T>G (p.Thr1647=) c.4758T>G (p.Thr1586=) c.4479T>G (p.Thr1493=) c.3522T>G (p.Thr1174=) c.3513T>G (p.Thr1171=) | |
| 5 | g.37020588G>A | CA359486982 | NIPBL | c.5140G>A (p.Gly1714Ser) c.1-43990G>A (n.1-43990G>A) c.4396G>A (p.Gly1466Ser) c.4942G>A (p.Gly1648Ser) c.4759G>A (p.Gly1587Ser) c.4480G>A (p.Gly1494Ser) c.3523G>A (p.Gly1175Ser) c.3514G>A (p.Gly1172Ser) | gnomAD v4 |
| 5 | g.37020588G>C | CA359486984 | NIPBL | c.5140G>C (p.Gly1714Arg) c.1-43990G>C (n.1-43990G>C) c.4396G>C (p.Gly1466Arg) c.4942G>C (p.Gly1648Arg) c.4759G>C (p.Gly1587Arg) c.4480G>C (p.Gly1494Arg) c.3523G>C (p.Gly1175Arg) c.3514G>C (p.Gly1172Arg) | |
| 5 | g.37020588G>T | CA359486980 | NIPBL | c.5140G>T (p.Gly1714Cys) c.1-43990G>T (n.1-43990G>T) c.4396G>T (p.Gly1466Cys) c.4942G>T (p.Gly1648Cys) c.4759G>T (p.Gly1587Cys) c.4480G>T (p.Gly1494Cys) c.3523G>T (p.Gly1175Cys) c.3514G>T (p.Gly1172Cys) | |
| 5 | g.37020589G>A | CA359486986 | NIPBL | c.5141G>A (p.Gly1714Asp) c.1-43989G>A (n.1-43989G>A) c.4397G>A (p.Gly1466Asp) c.4943G>A (p.Gly1648Asp) c.4760G>A (p.Gly1587Asp) c.4481G>A (p.Gly1494Asp) c.3524G>A (p.Gly1175Asp) c.3515G>A (p.Gly1172Asp) | |
| 5 | g.37020589G>C | CA359486989 | NIPBL | c.5141G>C (p.Gly1714Ala) c.1-43989G>C (n.1-43989G>C) c.4397G>C (p.Gly1466Ala) c.4943G>C (p.Gly1648Ala) c.4760G>C (p.Gly1587Ala) c.4481G>C (p.Gly1494Ala) c.3524G>C (p.Gly1175Ala) c.3515G>C (p.Gly1172Ala) | |
| 5 | g.37020589G>T | CA359486990 | NIPBL | c.5141G>T (p.Gly1714Val) c.1-43989G>T (n.1-43989G>T) c.4397G>T (p.Gly1466Val) c.4943G>T (p.Gly1648Val) c.4760G>T (p.Gly1587Val) c.4481G>T (p.Gly1494Val) c.3524G>T (p.Gly1175Val) c.3515G>T (p.Gly1172Val) | |
| 5 | g.37020590C>A | CA443905022 | NIPBL | c.5142C>A (p.Gly1714=) c.1-43988C>A (n.1-43988C>A) c.4398C>A (p.Gly1466=) c.4944C>A (p.Gly1648=) c.4761C>A (p.Gly1587=) c.4482C>A (p.Gly1494=) c.3525C>A (p.Gly1175=) c.3516C>A (p.Gly1172=) | |
| 5 | g.37020590C>G | CA443905023 | NIPBL | c.5142C>G (p.Gly1714=) c.1-43988C>G (n.1-43988C>G) c.4398C>G (p.Gly1466=) c.4944C>G (p.Gly1648=) c.4761C>G (p.Gly1587=) c.4482C>G (p.Gly1494=) c.3525C>G (p.Gly1175=) c.3516C>G (p.Gly1172=) | |
| 5 | g.37020590C>T | CA443905024 | NIPBL | c.5142C>T (p.Gly1714=) c.1-43988C>T (n.1-43988C>T) c.4398C>T (p.Gly1466=) c.4944C>T (p.Gly1648=) c.4761C>T (p.Gly1587=) c.4482C>T (p.Gly1494=) c.3525C>T (p.Gly1175=) c.3516C>T (p.Gly1172=) | |
| 5 | g.37020591C>A | CA359486994 | NIPBL | c.5143C>A (p.Gln1715Lys) c.1-43987C>A (n.1-43987C>A) c.4399C>A (p.Gln1467Lys) c.4945C>A (p.Gln1649Lys) c.4762C>A (p.Gln1588Lys) c.4483C>A (p.Gln1495Lys) c.3526C>A (p.Gln1176Lys) c.3517C>A (p.Gln1173Lys) | |
| 5 | g.37020591C>G | CA359486999 | NIPBL | c.5143C>G (p.Gln1715Glu) c.1-43987C>G (n.1-43987C>G) c.4399C>G (p.Gln1467Glu) c.4945C>G (p.Gln1649Glu) c.4762C>G (p.Gln1588Glu) c.4483C>G (p.Gln1495Glu) c.3526C>G (p.Gln1176Glu) c.3517C>G (p.Gln1173Glu) | gnomAD v4 |
| 5 | g.37020591C>T | CA359487001 | NIPBL | c.5143C>T (p.Gln1715Ter) c.1-43987C>T (n.1-43987C>T) c.4399C>T (p.Gln1467Ter) c.4945C>T (p.Gln1649Ter) c.4762C>T (p.Gln1588Ter) c.4483C>T (p.Gln1495Ter) c.3526C>T (p.Gln1176Ter) c.3517C>T (p.Gln1173Ter) | |
| 5 | g.37020592A>C | CA359487003 | NIPBL | c.5144A>C (p.Gln1715Pro) c.1-43986A>C (n.1-43986A>C) c.4400A>C (p.Gln1467Pro) c.4946A>C (p.Gln1649Pro) c.4763A>C (p.Gln1588Pro) c.4484A>C (p.Gln1495Pro) c.3527A>C (p.Gln1176Pro) c.3518A>C (p.Gln1173Pro) | |
| 5 | g.37020592A>G | CA359487006 | NIPBL | c.5144A>G (p.Gln1715Arg) c.1-43986A>G (n.1-43986A>G) c.4400A>G (p.Gln1467Arg) c.4946A>G (p.Gln1649Arg) c.4763A>G (p.Gln1588Arg) c.4484A>G (p.Gln1495Arg) c.3527A>G (p.Gln1176Arg) c.3518A>G (p.Gln1173Arg) | |
| 5 | g.37020592A>T | CA359487011 | NIPBL | c.5144A>T (p.Gln1715Leu) c.1-43986A>T (n.1-43986A>T) c.4400A>T (p.Gln1467Leu) c.4946A>T (p.Gln1649Leu) c.4763A>T (p.Gln1588Leu) c.4484A>T (p.Gln1495Leu) c.3527A>T (p.Gln1176Leu) c.3518A>T (p.Gln1173Leu) | |
| 5 | g.37020593A>C | CA359487014 | NIPBL | c.5145A>C (p.Gln1715His) c.1-43985A>C (n.1-43985A>C) c.4401A>C (p.Gln1467His) c.4947A>C (p.Gln1649His) c.4764A>C (p.Gln1588His) c.4485A>C (p.Gln1495His) c.3528A>C (p.Gln1176His) c.3519A>C (p.Gln1173His) | |
| 5 | g.37020593A>G | CA443905046 | NIPBL | c.5145A>G (p.Gln1715=) c.1-43985A>G (n.1-43985A>G) c.4401A>G (p.Gln1467=) c.4947A>G (p.Gln1649=) c.4764A>G (p.Gln1588=) c.4485A>G (p.Gln1495=) c.3528A>G (p.Gln1176=) c.3519A>G (p.Gln1173=) | |
| 5 | g.37020593A>T | CA359487017 | NIPBL | c.5145A>T (p.Gln1715His) c.1-43985A>T (n.1-43985A>T) c.4401A>T (p.Gln1467His) c.4947A>T (p.Gln1649His) c.4764A>T (p.Gln1588His) c.4485A>T (p.Gln1495His) c.3528A>T (p.Gln1176His) c.3519A>T (p.Gln1173His) | |
| 5 | g.37020594A= | CA1539619263 | NIPBL | c.5146A= (p.Ile1716=) c.1-43984A= (n.1-43984A=) c.4402A= (p.Ile1468=) c.4948A= (p.Ile1650=) c.4765A= (p.Ile1589=) c.4486A= (p.Ile1496=) c.3529A= (p.Ile1177=) c.3520A= (p.Ile1174=) | |
| 5 | g.37020594A>C | CA359487022 | NIPBL | c.5146A>C (p.Ile1716Leu) c.1-43984A>C (n.1-43984A>C) c.4402A>C (p.Ile1468Leu) c.4948A>C (p.Ile1650Leu) c.4765A>C (p.Ile1589Leu) c.4486A>C (p.Ile1496Leu) c.3529A>C (p.Ile1177Leu) c.3520A>C (p.Ile1174Leu) | |
| 5 | g.37020594A>G | CA359487023 | NIPBL | c.5146A>G (p.Ile1716Val) c.1-43984A>G (n.1-43984A>G) c.4402A>G (p.Ile1468Val) c.4948A>G (p.Ile1650Val) c.4765A>G (p.Ile1589Val) c.4486A>G (p.Ile1496Val) c.3529A>G (p.Ile1177Val) c.3520A>G (p.Ile1174Val) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.37020594A>T | CA359487019 | NIPBL | c.5146A>T (p.Ile1716Phe) c.1-43984A>T (n.1-43984A>T) c.4402A>T (p.Ile1468Phe) c.4948A>T (p.Ile1650Phe) c.4765A>T (p.Ile1589Phe) c.4486A>T (p.Ile1496Phe) c.3529A>T (p.Ile1177Phe) c.3520A>T (p.Ile1174Phe) | |
| 5 | g.37020595T>A | CA359487025 | NIPBL | c.5147T>A (p.Ile1716Asn) c.1-43983T>A (n.1-43983T>A) c.4403T>A (p.Ile1468Asn) c.4949T>A (p.Ile1650Asn) c.4766T>A (p.Ile1589Asn) c.4487T>A (p.Ile1496Asn) c.3530T>A (p.Ile1177Asn) c.3521T>A (p.Ile1174Asn) | |
| 5 | g.37020595T>C | CA359487027 | NIPBL | c.5147T>C (p.Ile1716Thr) c.1-43983T>C (n.1-43983T>C) c.4403T>C (p.Ile1468Thr) c.4949T>C (p.Ile1650Thr) c.4766T>C (p.Ile1589Thr) c.4487T>C (p.Ile1496Thr) c.3530T>C (p.Ile1177Thr) c.3521T>C (p.Ile1174Thr) | |
| 5 | g.37020595T>G | CA359487028 | NIPBL | c.5147T>G (p.Ile1716Ser) c.1-43983T>G (n.1-43983T>G) c.4403T>G (p.Ile1468Ser) c.4949T>G (p.Ile1650Ser) c.4766T>G (p.Ile1589Ser) c.4487T>G (p.Ile1496Ser) c.3530T>G (p.Ile1177Ser) c.3521T>G (p.Ile1174Ser) | |
| 5 | g.37020596T>A | CA443905049 | NIPBL | c.5148T>A (p.Ile1716=) c.1-43982T>A (n.1-43982T>A) c.4404T>A (p.Ile1468=) c.4950T>A (p.Ile1650=) c.4767T>A (p.Ile1589=) c.4488T>A (p.Ile1496=) c.3531T>A (p.Ile1177=) c.3522T>A (p.Ile1174=) | |
| 5 | g.37020596T>C | CA443905048 | NIPBL | c.5148T>C (p.Ile1716=) c.1-43982T>C (n.1-43982T>C) c.4404T>C (p.Ile1468=) c.4950T>C (p.Ile1650=) c.4767T>C (p.Ile1589=) c.4488T>C (p.Ile1496=) c.3531T>C (p.Ile1177=) c.3522T>C (p.Ile1174=) | |
| 5 | g.37020596T>G | CA359487030 | NIPBL | c.5148T>G (p.Ile1716Met) c.1-43982T>G (n.1-43982T>G) c.4404T>G (p.Ile1468Met) c.4950T>G (p.Ile1650Met) c.4767T>G (p.Ile1589Met) c.4488T>G (p.Ile1496Met) c.3531T>G (p.Ile1177Met) c.3522T>G (p.Ile1174Met) | |
| 5 | g.37020597_37020602del | CA2673553327 | NIPBL | c.5149_5154del (p.Met1717_His1718del) c.1-43981_1-43976del (n.1-43981_1-43976del) c.4405_4410del (p.Met1469_His1470del) c.4951_4956del (p.Met1651_His1652del) c.4768_4773del (p.Met1590_His1591del) c.4489_4494del (p.Met1497_His1498del) c.3532_3537del (p.Met1178_His1179del) c.3523_3528del (p.Met1175_His1176del) | gnomAD v4 |
| 5 | g.37020597A>C | CA359487046 | NIPBL | c.5149A>C (p.Met1717Leu) c.1-43981A>C (n.1-43981A>C) c.4405A>C (p.Met1469Leu) c.4951A>C (p.Met1651Leu) c.4768A>C (p.Met1590Leu) c.4489A>C (p.Met1497Leu) c.3532A>C (p.Met1178Leu) c.3523A>C (p.Met1175Leu) | gnomAD v4 |
| 5 | g.37020597A>G | CA359487040 | NIPBL | c.5149A>G (p.Met1717Val) c.1-43981A>G (n.1-43981A>G) c.4405A>G (p.Met1469Val) c.4951A>G (p.Met1651Val) c.4768A>G (p.Met1590Val) c.4489A>G (p.Met1497Val) c.3532A>G (p.Met1178Val) c.3523A>G (p.Met1175Val) | |
| 5 | g.37020597A>T | CA359487037 | NIPBL | c.5149A>T (p.Met1717Leu) c.1-43981A>T (n.1-43981A>T) c.4405A>T (p.Met1469Leu) c.4951A>T (p.Met1651Leu) c.4768A>T (p.Met1590Leu) c.4489A>T (p.Met1497Leu) c.3532A>T (p.Met1178Leu) c.3523A>T (p.Met1175Leu) | |
| 5 | g.37020598T>A | CA359487050 | NIPBL | c.5150T>A (p.Met1717Lys) c.1-43980T>A (n.1-43980T>A) c.4406T>A (p.Met1469Lys) c.4952T>A (p.Met1651Lys) c.4769T>A (p.Met1590Lys) c.4490T>A (p.Met1497Lys) c.3533T>A (p.Met1178Lys) c.3524T>A (p.Met1175Lys) | |
| 5 | g.37020598T>C | CA359487051 | NIPBL | c.5150T>C (p.Met1717Thr) c.1-43980T>C (n.1-43980T>C) c.4406T>C (p.Met1469Thr) c.4952T>C (p.Met1651Thr) c.4769T>C (p.Met1590Thr) c.4490T>C (p.Met1497Thr) c.3533T>C (p.Met1178Thr) c.3524T>C (p.Met1175Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.37020598T>G | CA359487053 | NIPBL | c.5150T>G (p.Met1717Arg) c.1-43980T>G (n.1-43980T>G) c.4406T>G (p.Met1469Arg) c.4952T>G (p.Met1651Arg) c.4769T>G (p.Met1590Arg) c.4490T>G (p.Met1497Arg) c.3533T>G (p.Met1178Arg) c.3524T>G (p.Met1175Arg) | |
| 5 | g.37020598T= | CA1539619264 | NIPBL | c.5150T= (p.Met1717=) c.1-43980T= (n.1-43980T=) c.4406T= (p.Met1469=) c.4952T= (p.Met1651=) c.4769T= (p.Met1590=) c.4490T= (p.Met1497=) c.3533T= (p.Met1178=) c.3524T= (p.Met1175=) | |
| 5 | g.37020599G>A | CA359487057 | NIPBL | c.5151G>A (p.Met1717Ile) c.1-43979G>A (n.1-43979G>A) c.4407G>A (p.Met1469Ile) c.4953G>A (p.Met1651Ile) c.4770G>A (p.Met1590Ile) c.4491G>A (p.Met1497Ile) c.3534G>A (p.Met1178Ile) c.3525G>A (p.Met1175Ile) | |
| 5 | g.37020599G>C | CA359487060 | NIPBL | c.5151G>C (p.Met1717Ile) c.1-43979G>C (n.1-43979G>C) c.4407G>C (p.Met1469Ile) c.4953G>C (p.Met1651Ile) c.4770G>C (p.Met1590Ile) c.4491G>C (p.Met1497Ile) c.3534G>C (p.Met1178Ile) c.3525G>C (p.Met1175Ile) | |
| 5 | g.37020599G>T | CA359487064 | NIPBL | c.5151G>T (p.Met1717Ile) c.1-43979G>T (n.1-43979G>T) c.4407G>T (p.Met1469Ile) c.4953G>T (p.Met1651Ile) c.4770G>T (p.Met1590Ile) c.4491G>T (p.Met1497Ile) c.3534G>T (p.Met1178Ile) c.3525G>T (p.Met1175Ile) | |
| 5 | g.37020600C>A | CA359487073 | NIPBL | c.5152C>A (p.His1718Asn) c.1-43978C>A (n.1-43978C>A) c.4408C>A (p.His1470Asn) c.4954C>A (p.His1652Asn) c.4771C>A (p.His1591Asn) c.4492C>A (p.His1498Asn) c.3535C>A (p.His1179Asn) c.3526C>A (p.His1176Asn) | |
| 5 | g.37020600C>G | CA359487072 | NIPBL | c.5152C>G (p.His1718Asp) c.1-43978C>G (n.1-43978C>G) c.4408C>G (p.His1470Asp) c.4954C>G (p.His1652Asp) c.4771C>G (p.His1591Asp) c.4492C>G (p.His1498Asp) c.3535C>G (p.His1179Asp) c.3526C>G (p.His1176Asp) | |
| 5 | g.37020600C>T | CA359487069 | NIPBL | c.5152C>T (p.His1718Tyr) c.1-43978C>T (n.1-43978C>T) c.4408C>T (p.His1470Tyr) c.4954C>T (p.His1652Tyr) c.4771C>T (p.His1591Tyr) c.4492C>T (p.His1498Tyr) c.3535C>T (p.His1179Tyr) c.3526C>T (p.His1176Tyr) | COSMIC COSMIC |
| 5 | g.37020601A= | CA1539619265 | NIPBL | c.5153A= (p.His1718=) c.1-43977A= (n.1-43977A=) c.4409A= (p.His1470=) c.4955A= (p.His1652=) c.4772A= (p.His1591=) c.4493A= (p.His1498=) c.3536A= (p.His1179=) c.3527A= (p.His1176=) | |
| 5 | g.37020601A>C | CA359487077 | NIPBL | c.5153A>C (p.His1718Pro) c.1-43977A>C (n.1-43977A>C) c.4409A>C (p.His1470Pro) c.4955A>C (p.His1652Pro) c.4772A>C (p.His1591Pro) c.4493A>C (p.His1498Pro) c.3536A>C (p.His1179Pro) c.3527A>C (p.His1176Pro) | |
| 5 | g.37020601A>G | CA3236704 | NIPBL | c.5153A>G (p.His1718Arg) c.1-43977A>G (n.1-43977A>G) c.4409A>G (p.His1470Arg) c.4955A>G (p.His1652Arg) c.4772A>G (p.His1591Arg) c.4493A>G (p.His1498Arg) c.3536A>G (p.His1179Arg) c.3527A>G (p.His1176Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.37020601A>T | CA359487081 | NIPBL | c.5153A>T (p.His1718Leu) c.1-43977A>T (n.1-43977A>T) c.4409A>T (p.His1470Leu) c.4955A>T (p.His1652Leu) c.4772A>T (p.His1591Leu) c.4493A>T (p.His1498Leu) c.3536A>T (p.His1179Leu) c.3527A>T (p.His1176Leu) | gnomAD v4 |
| 5 | g.37020602T>A | CA359487087 | NIPBL | c.5154T>A (p.His1718Gln) c.1-43976T>A (n.1-43976T>A) c.4410T>A (p.His1470Gln) c.4956T>A (p.His1652Gln) c.4773T>A (p.His1591Gln) c.4494T>A (p.His1498Gln) c.3537T>A (p.His1179Gln) c.3528T>A (p.His1176Gln) | |
| 5 | g.37020602T>C | CA443905055 | NIPBL | c.5154T>C (p.His1718=) c.1-43976T>C (n.1-43976T>C) c.4410T>C (p.His1470=) c.4956T>C (p.His1652=) c.4773T>C (p.His1591=) c.4494T>C (p.His1498=) c.3537T>C (p.His1179=) c.3528T>C (p.His1176=) | |
| 5 | g.37020602T>G | CA359487090 | NIPBL | c.5154T>G (p.His1718Gln) c.1-43976T>G (n.1-43976T>G) c.4410T>G (p.His1470Gln) c.4956T>G (p.His1652Gln) c.4773T>G (p.His1591Gln) c.4494T>G (p.His1498Gln) c.3537T>G (p.His1179Gln) c.3528T>G (p.His1176Gln) | |
| 5 | g.37020603C>A | CA443905056 | NIPBL | c.5155C>A (p.Arg1719=) c.1-43975C>A (n.1-43975C>A) c.4411C>A (p.Arg1471=) c.4957C>A (p.Arg1653=) c.4774C>A (p.Arg1592=) c.4495C>A (p.Arg1499=) c.3538C>A (p.Arg1180=) c.3529C>A (p.Arg1177=) | |
| 5 | g.37020603C>G | CA359487093 | NIPBL | c.5155C>G (p.Arg1719Gly) c.1-43975C>G (n.1-43975C>G) c.4411C>G (p.Arg1471Gly) c.4957C>G (p.Arg1653Gly) c.4774C>G (p.Arg1592Gly) c.4495C>G (p.Arg1499Gly) c.3538C>G (p.Arg1180Gly) c.3529C>G (p.Arg1177Gly) | |
| 5 | g.37020603C>T | CA359487097 | NIPBL | c.5155C>T (p.Arg1719Ter) c.1-43975C>T (n.1-43975C>T) c.4411C>T (p.Arg1471Ter) c.4957C>T (p.Arg1653Ter) c.4774C>T (p.Arg1592Ter) c.4495C>T (p.Arg1499Ter) c.3538C>T (p.Arg1180Ter) c.3529C>T (p.Arg1177Ter) | |
| 5 | g.37020604G>A | CA359487099 | NIPBL | c.5156G>A (p.Arg1719Gln) c.1-43974G>A (n.1-43974G>A) c.4412G>A (p.Arg1471Gln) c.4958G>A (p.Arg1653Gln) c.4775G>A (p.Arg1592Gln) c.4496G>A (p.Arg1499Gln) c.3539G>A (p.Arg1180Gln) c.3530G>A (p.Arg1177Gln) | dbSNP gnomAD v4 COSMIC COSMIC |
| 5 | g.37020604G>C | CA359487111 | NIPBL | c.5156G>C (p.Arg1719Pro) c.1-43974G>C (n.1-43974G>C) c.4412G>C (p.Arg1471Pro) c.4958G>C (p.Arg1653Pro) c.4775G>C (p.Arg1592Pro) c.4496G>C (p.Arg1499Pro) c.3539G>C (p.Arg1180Pro) c.3530G>C (p.Arg1177Pro) | |
| 5 | g.37020604G= | CA1539619266 | NIPBL | c.5156G= (p.Arg1719=) c.1-43974G= (n.1-43974G=) c.4412G= (p.Arg1471=) c.4958G= (p.Arg1653=) c.4775G= (p.Arg1592=) c.4496G= (p.Arg1499=) c.3539G= (p.Arg1180=) c.3530G= (p.Arg1177=) | |
| 5 | g.37020604G>T | CA359487118 | NIPBL | c.5156G>T (p.Arg1719Leu) c.1-43974G>T (n.1-43974G>T) c.4412G>T (p.Arg1471Leu) c.4958G>T (p.Arg1653Leu) c.4775G>T (p.Arg1592Leu) c.4496G>T (p.Arg1499Leu) c.3539G>T (p.Arg1180Leu) c.3530G>T (p.Arg1177Leu) | |
| 5 | g.37020605A>C | CA443905058 | NIPBL | c.5157A>C (p.Arg1719=) c.1-43973A>C (n.1-43973A>C) c.4413A>C (p.Arg1471=) c.4959A>C (p.Arg1653=) c.4776A>C (p.Arg1592=) c.4497A>C (p.Arg1499=) c.3540A>C (p.Arg1180=) c.3531A>C (p.Arg1177=) | |
| 5 | g.37020605A>G | CA443905059 | NIPBL | c.5157A>G (p.Arg1719=) c.1-43973A>G (n.1-43973A>G) c.4413A>G (p.Arg1471=) c.4959A>G (p.Arg1653=) c.4776A>G (p.Arg1592=) c.4497A>G (p.Arg1499=) c.3540A>G (p.Arg1180=) c.3531A>G (p.Arg1177=) | |
| 5 | g.37020605A>T | CA443905060 | NIPBL | c.5157A>T (p.Arg1719=) c.1-43973A>T (n.1-43973A>T) c.4413A>T (p.Arg1471=) c.4959A>T (p.Arg1653=) c.4776A>T (p.Arg1592=) c.4497A>T (p.Arg1499=) c.3540A>T (p.Arg1180=) c.3531A>T (p.Arg1177=) | |
| 5 | g.37020606G>A | CA3236705 | NIPBL | c.5158G>A (p.Ala1720Thr) c.1-43972G>A (n.1-43972G>A) c.4414G>A (p.Ala1472Thr) c.4960G>A (p.Ala1654Thr) c.4777G>A (p.Ala1593Thr) c.4498G>A (p.Ala1500Thr) c.3541G>A (p.Ala1181Thr) c.3532G>A (p.Ala1178Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.37020606G>C | CA359487123 | NIPBL | c.5158G>C (p.Ala1720Pro) c.1-43972G>C (n.1-43972G>C) c.4414G>C (p.Ala1472Pro) c.4960G>C (p.Ala1654Pro) c.4777G>C (p.Ala1593Pro) c.4498G>C (p.Ala1500Pro) c.3541G>C (p.Ala1181Pro) c.3532G>C (p.Ala1178Pro) | |
| 5 | g.37020606G= | CA1539619267 | NIPBL | c.5158G= (p.Ala1720=) c.1-43972G= (n.1-43972G=) c.4414G= (p.Ala1472=) c.4960G= (p.Ala1654=) c.4777G= (p.Ala1593=) c.4498G= (p.Ala1500=) c.3541G= (p.Ala1181=) c.3532G= (p.Ala1178=) | |
| 5 | g.37020606G>T | CA359487127 | NIPBL | c.5158G>T (p.Ala1720Ser) c.1-43972G>T (n.1-43972G>T) c.4414G>T (p.Ala1472Ser) c.4960G>T (p.Ala1654Ser) c.4777G>T (p.Ala1593Ser) c.4498G>T (p.Ala1500Ser) c.3541G>T (p.Ala1181Ser) c.3532G>T (p.Ala1178Ser) | gnomAD v4 |
| 5 | g.37020607C>A | CA359487150 | NIPBL | c.5159C>A (p.Ala1720Asp) c.1-43971C>A (n.1-43971C>A) c.4415C>A (p.Ala1472Asp) c.4961C>A (p.Ala1654Asp) c.4778C>A (p.Ala1593Asp) c.4499C>A (p.Ala1500Asp) c.3542C>A (p.Ala1181Asp) c.3533C>A (p.Ala1178Asp) | |
| 5 | g.37020607C>G | CA359487146 | NIPBL | c.5159C>G (p.Ala1720Gly) c.1-43971C>G (n.1-43971C>G) c.4415C>G (p.Ala1472Gly) c.4961C>G (p.Ala1654Gly) c.4778C>G (p.Ala1593Gly) c.4499C>G (p.Ala1500Gly) c.3542C>G (p.Ala1181Gly) c.3533C>G (p.Ala1178Gly) | |
| 5 | g.37020607C>T | CA359487143 | NIPBL | c.5159C>T (p.Ala1720Val) c.1-43971C>T (n.1-43971C>T) c.4415C>T (p.Ala1472Val) c.4961C>T (p.Ala1654Val) c.4778C>T (p.Ala1593Val) c.4499C>T (p.Ala1500Val) c.3542C>T (p.Ala1181Val) c.3533C>T (p.Ala1178Val) | |
| 5 | g.37020608T>A | CA443905064 | NIPBL | c.5160T>A (p.Ala1720=) c.1-43970T>A (n.1-43970T>A) c.4416T>A (p.Ala1472=) c.4962T>A (p.Ala1654=) c.4779T>A (p.Ala1593=) c.4500T>A (p.Ala1500=) c.3543T>A (p.Ala1181=) c.3534T>A (p.Ala1178=) | |
| 5 | g.37020608T>C | CA443905065 | NIPBL | c.5160T>C (p.Ala1720=) c.1-43970T>C (n.1-43970T>C) c.4416T>C (p.Ala1472=) c.4962T>C (p.Ala1654=) c.4779T>C (p.Ala1593=) c.4500T>C (p.Ala1500=) c.3543T>C (p.Ala1181=) c.3534T>C (p.Ala1178=) | |
| 5 | g.37020608T>G | CA443905066 | NIPBL | c.5160T>G (p.Ala1720=) c.1-43970T>G (n.1-43970T>G) c.4416T>G (p.Ala1472=) c.4962T>G (p.Ala1654=) c.4779T>G (p.Ala1593=) c.4500T>G (p.Ala1500=) c.3543T>G (p.Ala1181=) c.3534T>G (p.Ala1178=) | |
| 5 | g.37020609G>A | CA359487153 | NIPBL | c.5161G>A (p.Glu1721Lys) c.1-43969G>A (n.1-43969G>A) c.4417G>A (p.Glu1473Lys) c.4963G>A (p.Glu1655Lys) c.4780G>A (p.Glu1594Lys) c.4501G>A (p.Glu1501Lys) c.3544G>A (p.Glu1182Lys) c.3535G>A (p.Glu1179Lys) | |
| 5 | g.37020609G>C | CA359487155 | NIPBL | c.5161G>C (p.Glu1721Gln) c.1-43969G>C (n.1-43969G>C) c.4417G>C (p.Glu1473Gln) c.4963G>C (p.Glu1655Gln) c.4780G>C (p.Glu1594Gln) c.4501G>C (p.Glu1501Gln) c.3544G>C (p.Glu1182Gln) c.3535G>C (p.Glu1179Gln) | |
| 5 | g.37020609G>T | CA359487156 | NIPBL | c.5161G>T (p.Glu1721Ter) c.1-43969G>T (n.1-43969G>T) c.4417G>T (p.Glu1473Ter) c.4963G>T (p.Glu1655Ter) c.4780G>T (p.Glu1594Ter) c.4501G>T (p.Glu1501Ter) c.3544G>T (p.Glu1182Ter) c.3535G>T (p.Glu1179Ter) | |
| 5 | g.37020610A>C | CA359487158 | NIPBL | c.5162A>C (p.Glu1721Ala) c.1-43968A>C (n.1-43968A>C) c.4418A>C (p.Glu1473Ala) c.4964A>C (p.Glu1655Ala) c.4781A>C (p.Glu1594Ala) c.4502A>C (p.Glu1501Ala) c.3545A>C (p.Glu1182Ala) c.3536A>C (p.Glu1179Ala) | |
| 5 | g.37020610A>G | CA359487161 | NIPBL | c.5162A>G (p.Glu1721Gly) c.1-43968A>G (n.1-43968A>G) c.4418A>G (p.Glu1473Gly) c.4964A>G (p.Glu1655Gly) c.4781A>G (p.Glu1594Gly) c.4502A>G (p.Glu1501Gly) c.3545A>G (p.Glu1182Gly) c.3536A>G (p.Glu1179Gly) | |
| 5 | g.37020610A>T | CA359487165 | NIPBL | c.5162A>T (p.Glu1721Val) c.1-43968A>T (n.1-43968A>T) c.4418A>T (p.Glu1473Val) c.4964A>T (p.Glu1655Val) c.4781A>T (p.Glu1594Val) c.4502A>T (p.Glu1501Val) c.3545A>T (p.Glu1182Val) c.3536A>T (p.Glu1179Val) | |
| 5 | g.37020611A>C | CA359487170 | NIPBL | c.5163A>C (p.Glu1721Asp) c.1-43967A>C (n.1-43967A>C) c.4419A>C (p.Glu1473Asp) c.4965A>C (p.Glu1655Asp) c.4782A>C (p.Glu1594Asp) c.4503A>C (p.Glu1501Asp) c.3546A>C (p.Glu1182Asp) c.3537A>C (p.Glu1179Asp) | gnomAD v4 |
| 5 | g.37020611A>G | CA443905068 | NIPBL | c.5163A>G (p.Glu1721=) c.1-43967A>G (n.1-43967A>G) c.4419A>G (p.Glu1473=) c.4965A>G (p.Glu1655=) c.4782A>G (p.Glu1594=) c.4503A>G (p.Glu1501=) c.3546A>G (p.Glu1182=) c.3537A>G (p.Glu1179=) | |
| 5 | g.37020611A>T | CA359487171 | NIPBL | c.5163A>T (p.Glu1721Asp) c.1-43967A>T (n.1-43967A>T) c.4419A>T (p.Glu1473Asp) c.4965A>T (p.Glu1655Asp) c.4782A>T (p.Glu1594Asp) c.4503A>T (p.Glu1501Asp) c.3546A>T (p.Glu1182Asp) c.3537A>T (p.Glu1179Asp) | |
| 5 | g.37020612A>C | CA359487174 | NIPBL | c.5164A>C (p.Asn1722His) c.1-43966A>C (n.1-43966A>C) c.4420A>C (p.Asn1474His) c.4966A>C (p.Asn1656His) c.4783A>C (p.Asn1595His) c.4504A>C (p.Asn1502His) c.3547A>C (p.Asn1183His) c.3538A>C (p.Asn1180His) | gnomAD v4 |
| 5 | g.37020612A>G | CA359487176 | NIPBL | c.5164A>G (p.Asn1722Asp) c.1-43966A>G (n.1-43966A>G) c.4420A>G (p.Asn1474Asp) c.4966A>G (p.Asn1656Asp) c.4783A>G (p.Asn1595Asp) c.4504A>G (p.Asn1502Asp) c.3547A>G (p.Asn1183Asp) c.3538A>G (p.Asn1180Asp) | COSMIC COSMIC |
| 5 | g.37020612A>T | CA359487179 | NIPBL | c.5164A>T (p.Asn1722Tyr) c.1-43966A>T (n.1-43966A>T) c.4420A>T (p.Asn1474Tyr) c.4966A>T (p.Asn1656Tyr) c.4783A>T (p.Asn1595Tyr) c.4504A>T (p.Asn1502Tyr) c.3547A>T (p.Asn1183Tyr) c.3538A>T (p.Asn1180Tyr) | |
| 5 | g.37020613A>C | CA359487186 | NIPBL | c.5165A>C (p.Asn1722Thr) c.1-43965A>C (n.1-43965A>C) c.4421A>C (p.Asn1474Thr) c.4967A>C (p.Asn1656Thr) c.4784A>C (p.Asn1595Thr) c.4505A>C (p.Asn1502Thr) c.3548A>C (p.Asn1183Thr) c.3539A>C (p.Asn1180Thr) | |
| 5 | g.37020613A>G | CA359487187 | NIPBL | c.5165A>G (p.Asn1722Ser) c.1-43965A>G (n.1-43965A>G) c.4421A>G (p.Asn1474Ser) c.4967A>G (p.Asn1656Ser) c.4784A>G (p.Asn1595Ser) c.4505A>G (p.Asn1502Ser) c.3548A>G (p.Asn1183Ser) c.3539A>G (p.Asn1180Ser) | |
| 5 | g.37020613A>T | CA359487183 | NIPBL | c.5165A>T (p.Asn1722Ile) c.1-43965A>T (n.1-43965A>T) c.4421A>T (p.Asn1474Ile) c.4967A>T (p.Asn1656Ile) c.4784A>T (p.Asn1595Ile) c.4505A>T (p.Asn1502Ile) c.3548A>T (p.Asn1183Ile) c.3539A>T (p.Asn1180Ile) | |
| 5 | g.37020614C>A | CA359487188 | NIPBL | c.5166C>A (p.Asn1722Lys) c.1-43964C>A (n.1-43964C>A) c.4422C>A (p.Asn1474Lys) c.4968C>A (p.Asn1656Lys) c.4785C>A (p.Asn1595Lys) c.4506C>A (p.Asn1502Lys) c.3549C>A (p.Asn1183Lys) c.3540C>A (p.Asn1180Lys) | |
| 5 | g.37020614C>G | CA359487189 | NIPBL | c.5166C>G (p.Asn1722Lys) c.1-43964C>G (n.1-43964C>G) c.4422C>G (p.Asn1474Lys) c.4968C>G (p.Asn1656Lys) c.4785C>G (p.Asn1595Lys) c.4506C>G (p.Asn1502Lys) c.3549C>G (p.Asn1183Lys) c.3540C>G (p.Asn1180Lys) | |
| 5 | g.37020614C>T | CA443905072 | NIPBL | c.5166C>T (p.Asn1722=) c.1-43964C>T (n.1-43964C>T) c.4422C>T (p.Asn1474=) c.4968C>T (p.Asn1656=) c.4785C>T (p.Asn1595=) c.4506C>T (p.Asn1502=) c.3549C>T (p.Asn1183=) c.3540C>T (p.Asn1180=) | |
| 5 | g.37020615C>A | CA443905073 | NIPBL | c.5167C>A (p.Arg1723=) c.1-43963C>A (n.1-43963C>A) c.4423C>A (p.Arg1475=) c.4969C>A (p.Arg1657=) c.4786C>A (p.Arg1596=) c.4507C>A (p.Arg1503=) c.3550C>A (p.Arg1184=) c.3541C>A (p.Arg1181=) | |
| 5 | g.37020615C= | CA1539619268 | NIPBL | c.5167C= (p.Arg1723=) c.1-43963C= (n.1-43963C=) c.4423C= (p.Arg1475=) c.4969C= (p.Arg1657=) c.4786C= (p.Arg1596=) c.4507C= (p.Arg1503=) c.3550C= (p.Arg1184=) c.3541C= (p.Arg1181=) | |
| 5 | g.37020615C>G | CA359487190 | NIPBL | c.5167C>G (p.Arg1723Gly) c.1-43963C>G (n.1-43963C>G) c.4423C>G (p.Arg1475Gly) c.4969C>G (p.Arg1657Gly) c.4786C>G (p.Arg1596Gly) c.4507C>G (p.Arg1503Gly) c.3550C>G (p.Arg1184Gly) c.3541C>G (p.Arg1181Gly) | |
| 5 | g.37020615C>T | CA252120 | NIPBL | c.5167C>T (p.Arg1723Ter) c.1-43963C>T (n.1-43963C>T) c.4423C>T (p.Arg1475Ter) c.4969C>T (p.Arg1657Ter) c.4786C>T (p.Arg1596Ter) c.4507C>T (p.Arg1503Ter) c.3550C>T (p.Arg1184Ter) c.3541C>T (p.Arg1181Ter) | ClinVar dbSNP COSMIC COSMIC |
| 5 | g.37020616G>A | CA10620336 | NIPBL | c.5168G>A (p.Arg1723Gln) c.1-43962G>A (n.1-43962G>A) c.4424G>A (p.Arg1475Gln) c.4970G>A (p.Arg1657Gln) c.4787G>A (p.Arg1596Gln) c.4508G>A (p.Arg1503Gln) c.3551G>A (p.Arg1184Gln) c.3542G>A (p.Arg1181Gln) | ClinVar dbSNP gnomAD v4 |
| 5 | g.37020616G>C | CA359487193 | NIPBL | c.5168G>C (p.Arg1723Pro) c.1-43962G>C (n.1-43962G>C) c.4424G>C (p.Arg1475Pro) c.4970G>C (p.Arg1657Pro) c.4787G>C (p.Arg1596Pro) c.4508G>C (p.Arg1503Pro) c.3551G>C (p.Arg1184Pro) c.3542G>C (p.Arg1181Pro) | |
| 5 | g.37020616G= | CA1539619270 | NIPBL | c.5168G= (p.Arg1723=) c.1-43962G= (n.1-43962G=) c.4424G= (p.Arg1475=) c.4970G= (p.Arg1657=) c.4787G= (p.Arg1596=) c.4508G= (p.Arg1503=) c.3551G= (p.Arg1184=) c.3542G= (p.Arg1181=) | |
| 5 | g.37020616G>T | CA359487195 | NIPBL | c.5168G>T (p.Arg1723Leu) c.1-43962G>T (n.1-43962G>T) c.4424G>T (p.Arg1475Leu) c.4970G>T (p.Arg1657Leu) c.4787G>T (p.Arg1596Leu) c.4508G>T (p.Arg1503Leu) c.3551G>T (p.Arg1184Leu) c.3542G>T (p.Arg1181Leu) | |
| 5 | g.37020616_37020617delinsGA | CA1539619269 | NIPBL | c.5168_5169delinsGA (p.Arg1723=) c.1-43962_1-43961delinsGA (n.1-43962_1-43961delinsGA) c.4424_4425delinsGA (p.Arg1475=) c.4970_4971delinsGA (p.Arg1657=) c.4787_4788delinsGA (p.Arg1596=) c.4508_4509delinsGA (p.Arg1503=) c.3551_3552delinsGA (p.Arg1184=) c.3542_3543delinsGA (p.Arg1181=) | |
| 5 | g.37020617A>C | CA443905078 | NIPBL | c.5169A>C (p.Arg1723=) c.1-43961A>C (n.1-43961A>C) c.4425A>C (p.Arg1475=) c.4971A>C (p.Arg1657=) c.4788A>C (p.Arg1596=) c.4509A>C (p.Arg1503=) c.3552A>C (p.Arg1184=) c.3543A>C (p.Arg1181=) | |
| 5 | g.37020617A>G | CA443905077 | NIPBL | c.5169A>G (p.Arg1723=) c.1-43961A>G (n.1-43961A>G) c.4425A>G (p.Arg1475=) c.4971A>G (p.Arg1657=) c.4788A>G (p.Arg1596=) c.4509A>G (p.Arg1503=) c.3552A>G (p.Arg1184=) c.3543A>G (p.Arg1181=) | |
| 5 | g.37020617A>T | CA443905075 | NIPBL | c.5169A>T (p.Arg1723=) c.1-43961A>T (n.1-43961A>T) c.4425A>T (p.Arg1475=) c.4971A>T (p.Arg1657=) c.4788A>T (p.Arg1596=) c.4509A>T (p.Arg1503=) c.3552A>T (p.Arg1184=) c.3543A>T (p.Arg1181=) | |
| 5 | g.37020622dup | CA2840182095 | NIPBL | c.5174dup (p.Phe1726ValfsTer3) c.1-43956dup (n.1-43956dup) c.4430dup (p.Phe1478ValfsTer3) c.4976dup (p.Phe1660ValfsTer3) c.4793dup (p.Phe1599ValfsTer3) c.4514dup (p.Phe1506ValfsTer3) c.3557dup (p.Phe1187ValfsTer3) c.3548dup (p.Phe1184ValfsTer3) | |
| 5 | g.37020622del | CA272132 | NIPBL | c.5174del (p.Lys1725SerfsTer17) c.1-43956del (n.1-43956del) c.4430del (p.Lys1477SerfsTer17) c.4976del (p.Lys1659SerfsTer17) c.4793del (p.Lys1598SerfsTer17) c.4514del (p.Lys1505SerfsTer17) c.3557del (p.Lys1186SerfsTer17) c.3548del (p.Lys1183SerfsTer17) | ClinVar dbSNP |
| 5 | g.37020618A= | CA1539583959 | NIPBL | c.5170A= (p.Lys1724=) c.1-43960A= (n.1-43960A=) c.4426A= (p.Lys1476=) c.4972A= (p.Lys1658=) c.4789A= (p.Lys1597=) c.4510A= (p.Lys1504=) c.3553A= (p.Lys1185=) c.3544A= (p.Lys1182=) | |
| 5 | g.37020618A>C | CA359487202 | NIPBL | c.5170A>C (p.Lys1724Gln) c.1-43960A>C (n.1-43960A>C) c.4426A>C (p.Lys1476Gln) c.4972A>C (p.Lys1658Gln) c.4789A>C (p.Lys1597Gln) c.4510A>C (p.Lys1504Gln) c.3553A>C (p.Lys1185Gln) c.3544A>C (p.Lys1182Gln) | |
| 5 | g.37020618A>G | CA359487205 | NIPBL | c.5170A>G (p.Lys1724Glu) c.1-43960A>G (n.1-43960A>G) c.4426A>G (p.Lys1476Glu) c.4972A>G (p.Lys1658Glu) c.4789A>G (p.Lys1597Glu) c.4510A>G (p.Lys1504Glu) c.3553A>G (p.Lys1185Glu) c.3544A>G (p.Lys1182Glu) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.37020618A>T | CA359487210 | NIPBL | c.5170A>T (p.Lys1724Ter) c.1-43960A>T (n.1-43960A>T) c.4426A>T (p.Lys1476Ter) c.4972A>T (p.Lys1658Ter) c.4789A>T (p.Lys1597Ter) c.4510A>T (p.Lys1504Ter) c.3553A>T (p.Lys1185Ter) c.3544A>T (p.Lys1182Ter) | |
| 5 | g.37020619A>C | CA359487216 | NIPBL | c.5171A>C (p.Lys1724Thr) c.1-43959A>C (n.1-43959A>C) c.4427A>C (p.Lys1476Thr) c.4973A>C (p.Lys1658Thr) c.4790A>C (p.Lys1597Thr) c.4511A>C (p.Lys1504Thr) c.3554A>C (p.Lys1185Thr) c.3545A>C (p.Lys1182Thr) | gnomAD v4 |
| 5 | g.37020619A>G | CA359487226 | NIPBL | c.5171A>G (p.Lys1724Arg) c.1-43959A>G (n.1-43959A>G) c.4427A>G (p.Lys1476Arg) c.4973A>G (p.Lys1658Arg) c.4790A>G (p.Lys1597Arg) c.4511A>G (p.Lys1504Arg) c.3554A>G (p.Lys1185Arg) c.3545A>G (p.Lys1182Arg) | |
| 5 | g.37020619A>T | CA359487229 | NIPBL | c.5171A>T (p.Lys1724Ile) c.1-43959A>T (n.1-43959A>T) c.4427A>T (p.Lys1476Ile) c.4973A>T (p.Lys1658Ile) c.4790A>T (p.Lys1597Ile) c.4511A>T (p.Lys1504Ile) c.3554A>T (p.Lys1185Ile) c.3545A>T (p.Lys1182Ile) | |
| 5 | g.37020620A>C | CA359487238 | NIPBL | c.5172A>C (p.Lys1724Asn) c.1-43958A>C (n.1-43958A>C) c.4428A>C (p.Lys1476Asn) c.4974A>C (p.Lys1658Asn) c.4791A>C (p.Lys1597Asn) c.4512A>C (p.Lys1504Asn) c.3555A>C (p.Lys1185Asn) c.3546A>C (p.Lys1182Asn) | |
| 5 | g.37020620A>G | CA443905081 | NIPBL | c.5172A>G (p.Lys1724=) c.1-43958A>G (n.1-43958A>G) c.4428A>G (p.Lys1476=) c.4974A>G (p.Lys1658=) c.4791A>G (p.Lys1597=) c.4512A>G (p.Lys1504=) c.3555A>G (p.Lys1185=) c.3546A>G (p.Lys1182=) | |
| 5 | g.37020620A>T | CA359487234 | NIPBL | c.5172A>T (p.Lys1724Asn) c.1-43958A>T (n.1-43958A>T) c.4428A>T (p.Lys1476Asn) c.4974A>T (p.Lys1658Asn) c.4791A>T (p.Lys1597Asn) c.4512A>T (p.Lys1504Asn) c.3555A>T (p.Lys1185Asn) c.3546A>T (p.Lys1182Asn) | |
| 5 | g.37020621A>C | CA359487253 | NIPBL | c.5173A>C (p.Lys1725Gln) c.1-43957A>C (n.1-43957A>C) c.4429A>C (p.Lys1477Gln) c.4975A>C (p.Lys1659Gln) c.4792A>C (p.Lys1598Gln) c.4513A>C (p.Lys1505Gln) c.3556A>C (p.Lys1186Gln) c.3547A>C (p.Lys1183Gln) | |
| 5 | g.37020621A>G | CA359487255 | NIPBL | c.5173A>G (p.Lys1725Glu) c.1-43957A>G (n.1-43957A>G) c.4429A>G (p.Lys1477Glu) c.4975A>G (p.Lys1659Glu) c.4792A>G (p.Lys1598Glu) c.4513A>G (p.Lys1505Glu) c.3556A>G (p.Lys1186Glu) c.3547A>G (p.Lys1183Glu) | |
| 5 | g.37020621A>T | CA359487258 | NIPBL | c.5173A>T (p.Lys1725Ter) c.1-43957A>T (n.1-43957A>T) c.4429A>T (p.Lys1477Ter) c.4975A>T (p.Lys1659Ter) c.4792A>T (p.Lys1598Ter) c.4513A>T (p.Lys1505Ter) c.3556A>T (p.Lys1186Ter) c.3547A>T (p.Lys1183Ter) | |
| 5 | g.37020622A>C | CA359487260 | NIPBL | c.5174A>C (p.Lys1725Thr) c.1-43956A>C (n.1-43956A>C) c.4430A>C (p.Lys1477Thr) c.4976A>C (p.Lys1659Thr) c.4793A>C (p.Lys1598Thr) c.4514A>C (p.Lys1505Thr) c.3557A>C (p.Lys1186Thr) c.3548A>C (p.Lys1183Thr) | |
| 5 | g.37020622A>G | CA359487261 | NIPBL | c.5174A>G (p.Lys1725Arg) c.1-43956A>G (n.1-43956A>G) c.4430A>G (p.Lys1477Arg) c.4976A>G (p.Lys1659Arg) c.4793A>G (p.Lys1598Arg) c.4514A>G (p.Lys1505Arg) c.3557A>G (p.Lys1186Arg) c.3548A>G (p.Lys1183Arg) | |
| 5 | g.37020622A>T | CA359487262 | NIPBL | c.5174A>T (p.Lys1725Met) c.1-43956A>T (n.1-43956A>T) c.4430A>T (p.Lys1477Met) c.4976A>T (p.Lys1659Met) c.4793A>T (p.Lys1598Met) c.4514A>T (p.Lys1505Met) c.3557A>T (p.Lys1186Met) c.3548A>T (p.Lys1183Met) | |
| 5 | g.37020623G>A | CA3236706 | NIPBL | c.5175G>A (p.Lys1725=) c.1-43955G>A (n.1-43955G>A) c.4431G>A (p.Lys1477=) c.4977G>A (p.Lys1659=) c.4794G>A (p.Lys1598=) c.4515G>A (p.Lys1505=) c.3558G>A (p.Lys1186=) c.3549G>A (p.Lys1183=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.37020623G>C | CA359487263 | NIPBL | c.5175G>C (p.Lys1725Asn) c.1-43955G>C (n.1-43955G>C) c.4431G>C (p.Lys1477Asn) c.4977G>C (p.Lys1659Asn) c.4794G>C (p.Lys1598Asn) c.4515G>C (p.Lys1505Asn) c.3558G>C (p.Lys1186Asn) c.3549G>C (p.Lys1183Asn) | |
| 5 | g.37020623G= | CA1539583986 | NIPBL | c.5175G= (p.Lys1725=) c.1-43955G= (n.1-43955G=) c.4431G= (p.Lys1477=) c.4977G= (p.Lys1659=) c.4794G= (p.Lys1598=) c.4515G= (p.Lys1505=) c.3558G= (p.Lys1186=) c.3549G= (p.Lys1183=) | |
| 5 | g.37020623G>T | CA359487264 | NIPBL | c.5175G>T (p.Lys1725Asn) c.1-43955G>T (n.1-43955G>T) c.4431G>T (p.Lys1477Asn) c.4977G>T (p.Lys1659Asn) c.4794G>T (p.Lys1598Asn) c.4515G>T (p.Lys1505Asn) c.3558G>T (p.Lys1186Asn) c.3549G>T (p.Lys1183Asn) | |
| 5 | g.37020624T>A | CA359487267 | NIPBL | c.5176T>A (p.Phe1726Ile) c.1-43954T>A (n.1-43954T>A) c.4432T>A (p.Phe1478Ile) c.4978T>A (p.Phe1660Ile) c.4795T>A (p.Phe1599Ile) c.4516T>A (p.Phe1506Ile) c.3559T>A (p.Phe1187Ile) c.3550T>A (p.Phe1184Ile) | |
| 5 | g.37020624T>C | CA359487270 | NIPBL | c.5176T>C (p.Phe1726Leu) c.1-43954T>C (n.1-43954T>C) c.4432T>C (p.Phe1478Leu) c.4978T>C (p.Phe1660Leu) c.4795T>C (p.Phe1599Leu) c.4516T>C (p.Phe1506Leu) c.3559T>C (p.Phe1187Leu) c.3550T>C (p.Phe1184Leu) | |
| 5 | g.37020624T>G | CA359487273 | NIPBL | c.5176T>G (p.Phe1726Val) c.1-43954T>G (n.1-43954T>G) c.4432T>G (p.Phe1478Val) c.4978T>G (p.Phe1660Val) c.4795T>G (p.Phe1599Val) c.4516T>G (p.Phe1506Val) c.3559T>G (p.Phe1187Val) c.3550T>G (p.Phe1184Val) | |
| 5 | g.37020625T>A | CA359487284 | NIPBL | c.5177T>A (p.Phe1726Tyr) c.1-43953T>A (n.1-43953T>A) c.4433T>A (p.Phe1478Tyr) c.4979T>A (p.Phe1660Tyr) c.4796T>A (p.Phe1599Tyr) c.4517T>A (p.Phe1506Tyr) c.3560T>A (p.Phe1187Tyr) c.3551T>A (p.Phe1184Tyr) | |
| 5 | g.37020625T>C | CA359487280 | NIPBL | c.5177T>C (p.Phe1726Ser) c.1-43953T>C (n.1-43953T>C) c.4433T>C (p.Phe1478Ser) c.4979T>C (p.Phe1660Ser) c.4796T>C (p.Phe1599Ser) c.4517T>C (p.Phe1506Ser) c.3560T>C (p.Phe1187Ser) c.3551T>C (p.Phe1184Ser) | |
| 5 | g.37020625T>G | CA359487277 | NIPBL | c.5177T>G (p.Phe1726Cys) c.1-43953T>G (n.1-43953T>G) c.4433T>G (p.Phe1478Cys) c.4979T>G (p.Phe1660Cys) c.4796T>G (p.Phe1599Cys) c.4517T>G (p.Phe1506Cys) c.3560T>G (p.Phe1187Cys) c.3551T>G (p.Phe1184Cys) | |
| 5 | g.37020626T>A | CA359487297 | NIPBL | c.5178T>A (p.Phe1726Leu) c.1-43952T>A (n.1-43952T>A) c.4434T>A (p.Phe1478Leu) c.4980T>A (p.Phe1660Leu) c.4797T>A (p.Phe1599Leu) c.4518T>A (p.Phe1506Leu) c.3561T>A (p.Phe1187Leu) c.3552T>A (p.Phe1184Leu) | gnomAD v4 |
| 5 | g.37020626T>C | CA443905086 | NIPBL | c.5178T>C (p.Phe1726=) c.1-43952T>C (n.1-43952T>C) c.4434T>C (p.Phe1478=) c.4980T>C (p.Phe1660=) c.4797T>C (p.Phe1599=) c.4518T>C (p.Phe1506=) c.3561T>C (p.Phe1187=) c.3552T>C (p.Phe1184=) | |
| 5 | g.37020626T>G | CA359487299 | NIPBL | c.5178T>G (p.Phe1726Leu) c.1-43952T>G (n.1-43952T>G) c.4434T>G (p.Phe1478Leu) c.4980T>G (p.Phe1660Leu) c.4797T>G (p.Phe1599Leu) c.4518T>G (p.Phe1506Leu) c.3561T>G (p.Phe1187Leu) c.3552T>G (p.Phe1184Leu) | |
| 5 | g.37020627C>A | CA359487305 | NIPBL | c.5179C>A (p.Leu1727Ile) c.1-43951C>A (n.1-43951C>A) c.4435C>A (p.Leu1479Ile) c.4981C>A (p.Leu1661Ile) c.4798C>A (p.Leu1600Ile) c.4519C>A (p.Leu1507Ile) c.3562C>A (p.Leu1188Ile) c.3553C>A (p.Leu1185Ile) | |
| 5 | g.37020627C>G | CA359487308 | NIPBL | c.5179C>G (p.Leu1727Val) c.1-43951C>G (n.1-43951C>G) c.4435C>G (p.Leu1479Val) c.4981C>G (p.Leu1661Val) c.4798C>G (p.Leu1600Val) c.4519C>G (p.Leu1507Val) c.3562C>G (p.Leu1188Val) c.3553C>G (p.Leu1185Val) | |
| 5 | g.37020627C>T | CA359487311 | NIPBL | c.5179C>T (p.Leu1727Phe) c.1-43951C>T (n.1-43951C>T) c.4435C>T (p.Leu1479Phe) c.4981C>T (p.Leu1661Phe) c.4798C>T (p.Leu1600Phe) c.4519C>T (p.Leu1507Phe) c.3562C>T (p.Leu1188Phe) c.3553C>T (p.Leu1185Phe) | |
| 5 | g.37020628T>A | CA359487314 | NIPBL | c.5180T>A (p.Leu1727His) c.1-43950T>A (n.1-43950T>A) c.4436T>A (p.Leu1479His) c.4982T>A (p.Leu1661His) c.4799T>A (p.Leu1600His) c.4520T>A (p.Leu1507His) c.3563T>A (p.Leu1188His) c.3554T>A (p.Leu1185His) | |
| 5 | g.37020628T>C | CA359487324 | NIPBL | c.5180T>C (p.Leu1727Pro) c.1-43950T>C (n.1-43950T>C) c.4436T>C (p.Leu1479Pro) c.4982T>C (p.Leu1661Pro) c.4799T>C (p.Leu1600Pro) c.4520T>C (p.Leu1507Pro) c.3563T>C (p.Leu1188Pro) c.3554T>C (p.Leu1185Pro) | |
| 5 | g.37020628T>G | CA359487326 | NIPBL | c.5180T>G (p.Leu1727Arg) c.1-43950T>G (n.1-43950T>G) c.4436T>G (p.Leu1479Arg) c.4982T>G (p.Leu1661Arg) c.4799T>G (p.Leu1600Arg) c.4520T>G (p.Leu1507Arg) c.3563T>G (p.Leu1188Arg) c.3554T>G (p.Leu1185Arg) | |
| 5 | g.37020629T>A | CA443905088 | NIPBL | c.5181T>A (p.Leu1727=) c.1-43949T>A (n.1-43949T>A) c.4437T>A (p.Leu1479=) c.4983T>A (p.Leu1661=) c.4800T>A (p.Leu1600=) c.4521T>A (p.Leu1507=) c.3564T>A (p.Leu1188=) c.3555T>A (p.Leu1185=) | |
| 5 | g.37020629T>C | CA443905089 | NIPBL | c.5181T>C (p.Leu1727=) c.1-43949T>C (n.1-43949T>C) c.4437T>C (p.Leu1479=) c.4983T>C (p.Leu1661=) c.4800T>C (p.Leu1600=) c.4521T>C (p.Leu1507=) c.3564T>C (p.Leu1188=) c.3555T>C (p.Leu1185=) | dbSNP gnomAD v4 |
| 5 | g.37020629T>G | CA443905090 | NIPBL | c.5181T>G (p.Leu1727=) c.1-43949T>G (n.1-43949T>G) c.4437T>G (p.Leu1479=) c.4983T>G (p.Leu1661=) c.4800T>G (p.Leu1600=) c.4521T>G (p.Leu1507=) c.3564T>G (p.Leu1188=) c.3555T>G (p.Leu1185=) | |
| 5 | g.37020629T= | CA1539583994 | NIPBL | c.5181T= (p.Leu1727=) c.1-43949T= (n.1-43949T=) c.4437T= (p.Leu1479=) c.4983T= (p.Leu1661=) c.4800T= (p.Leu1600=) c.4521T= (p.Leu1507=) c.3564T= (p.Leu1188=) c.3555T= (p.Leu1185=) | |
| 5 | g.37020630A= | CA1539584001 | NIPBL | c.5182A= (p.Arg1728=) c.1-43948A= (n.1-43948A=) c.4438A= (p.Arg1480=) c.4984A= (p.Arg1662=) c.4801A= (p.Arg1601=) c.4522A= (p.Arg1508=) c.3565A= (p.Arg1189=) c.3556A= (p.Arg1186=) | |
| 5 | g.37020630A>C | CA443905092 | NIPBL | c.5182A>C (p.Arg1728=) c.1-43948A>C (n.1-43948A>C) c.4438A>C (p.Arg1480=) c.4984A>C (p.Arg1662=) c.4801A>C (p.Arg1601=) c.4522A>C (p.Arg1508=) c.3565A>C (p.Arg1189=) c.3556A>C (p.Arg1186=) | |
| 5 | g.37020630A>G | CA3236707 | NIPBL | c.5182A>G (p.Arg1728Gly) c.1-43948A>G (n.1-43948A>G) c.4438A>G (p.Arg1480Gly) c.4984A>G (p.Arg1662Gly) c.4801A>G (p.Arg1601Gly) c.4522A>G (p.Arg1508Gly) c.3565A>G (p.Arg1189Gly) c.3556A>G (p.Arg1186Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.37020630A>T | CA359487334 | NIPBL | c.5182A>T (p.Arg1728Ter) c.1-43948A>T (n.1-43948A>T) c.4438A>T (p.Arg1480Ter) c.4984A>T (p.Arg1662Ter) c.4801A>T (p.Arg1601Ter) c.4522A>T (p.Arg1508Ter) c.3565A>T (p.Arg1189Ter) c.3556A>T (p.Arg1186Ter) | |
| 5 | g.37020631G>A | CA359487338 | NIPBL | c.5183G>A (p.Arg1728Lys) c.1-43947G>A (n.1-43947G>A) c.4439G>A (p.Arg1480Lys) c.4985G>A (p.Arg1662Lys) c.4802G>A (p.Arg1601Lys) c.4523G>A (p.Arg1508Lys) c.3566G>A (p.Arg1189Lys) c.3557G>A (p.Arg1186Lys) | gnomAD v4 |
| 5 | g.37020631G>C | CA359487343 | NIPBL | c.5183G>C (p.Arg1728Thr) c.1-43947G>C (n.1-43947G>C) c.4439G>C (p.Arg1480Thr) c.4985G>C (p.Arg1662Thr) c.4802G>C (p.Arg1601Thr) c.4523G>C (p.Arg1508Thr) c.3566G>C (p.Arg1189Thr) c.3557G>C (p.Arg1186Thr) | |
| 5 | g.37020631G>T | CA359487341 | NIPBL | c.5183G>T (p.Arg1728Ile) c.1-43947G>T (n.1-43947G>T) c.4439G>T (p.Arg1480Ile) c.4985G>T (p.Arg1662Ile) c.4802G>T (p.Arg1601Ile) c.4523G>T (p.Arg1508Ile) c.3566G>T (p.Arg1189Ile) c.3557G>T (p.Arg1186Ile) | |
| 5 | g.37020632A= | CA1539584006 | NIPBL | c.5184A= (p.Arg1728=) c.1-43946A= (n.1-43946A=) c.4440A= (p.Arg1480=) c.4986A= (p.Arg1662=) c.4803A= (p.Arg1601=) c.4524A= (p.Arg1508=) c.3567A= (p.Arg1189=) c.3558A= (p.Arg1186=) | |
| 5 | g.37020632A>C | CA359487348 | NIPBL | c.5184A>C (p.Arg1728Ser) c.1-43946A>C (n.1-43946A>C) c.4440A>C (p.Arg1480Ser) c.4986A>C (p.Arg1662Ser) c.4803A>C (p.Arg1601Ser) c.4524A>C (p.Arg1508Ser) c.3567A>C (p.Arg1189Ser) c.3558A>C (p.Arg1186Ser) | |
| 5 | g.37020632A>G | CA443905094 | NIPBL | c.5184A>G (p.Arg1728=) c.1-43946A>G (n.1-43946A>G) c.4440A>G (p.Arg1480=) c.4986A>G (p.Arg1662=) c.4803A>G (p.Arg1601=) c.4524A>G (p.Arg1508=) c.3567A>G (p.Arg1189=) c.3558A>G (p.Arg1186=) | |
| 5 | g.37020632A>T | CA3236708 | NIPBL | c.5184A>T (p.Arg1728Ser) c.1-43946A>T (n.1-43946A>T) c.4440A>T (p.Arg1480Ser) c.4986A>T (p.Arg1662Ser) c.4803A>T (p.Arg1601Ser) c.4524A>T (p.Arg1508Ser) c.3567A>T (p.Arg1189Ser) c.3558A>T (p.Arg1186Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.37020633A>C | CA359487353 | NIPBL | c.5185A>C (p.Ser1729Arg) c.1-43945A>C (n.1-43945A>C) c.4441A>C (p.Ser1481Arg) c.4987A>C (p.Ser1663Arg) c.4804A>C (p.Ser1602Arg) c.4525A>C (p.Ser1509Arg) c.3568A>C (p.Ser1190Arg) c.3559A>C (p.Ser1187Arg) | |
| 5 | g.37020633A>G | CA359487355 | NIPBL | c.5185A>G (p.Ser1729Gly) c.1-43945A>G (n.1-43945A>G) c.4441A>G (p.Ser1481Gly) c.4987A>G (p.Ser1663Gly) c.4804A>G (p.Ser1602Gly) c.4525A>G (p.Ser1509Gly) c.3568A>G (p.Ser1190Gly) c.3559A>G (p.Ser1187Gly) | |
| 5 | g.37020633A>T | CA359487360 | NIPBL | c.5185A>T (p.Ser1729Cys) c.1-43945A>T (n.1-43945A>T) c.4441A>T (p.Ser1481Cys) c.4987A>T (p.Ser1663Cys) c.4804A>T (p.Ser1602Cys) c.4525A>T (p.Ser1509Cys) c.3568A>T (p.Ser1190Cys) c.3559A>T (p.Ser1187Cys) | |
| 5 | g.37020634G>A | CA359487363 | NIPBL | c.5186G>A (p.Ser1729Asn) c.1-43944G>A (n.1-43944G>A) c.4442G>A (p.Ser1481Asn) c.4988G>A (p.Ser1663Asn) c.4805G>A (p.Ser1602Asn) c.4526G>A (p.Ser1509Asn) c.3569G>A (p.Ser1190Asn) c.3560G>A (p.Ser1187Asn) | gnomAD v4 |
| 5 | g.37020634G>C | CA359487366 | NIPBL | c.5186G>C (p.Ser1729Thr) c.1-43944G>C (n.1-43944G>C) c.4442G>C (p.Ser1481Thr) c.4988G>C (p.Ser1663Thr) c.4805G>C (p.Ser1602Thr) c.4526G>C (p.Ser1509Thr) c.3569G>C (p.Ser1190Thr) c.3560G>C (p.Ser1187Thr) | |
| 5 | g.37020634G>T | CA359487364 | NIPBL | c.5186G>T (p.Ser1729Ile) c.1-43944G>T (n.1-43944G>T) c.4442G>T (p.Ser1481Ile) c.4988G>T (p.Ser1663Ile) c.4805G>T (p.Ser1602Ile) c.4526G>T (p.Ser1509Ile) c.3569G>T (p.Ser1190Ile) c.3560G>T (p.Ser1187Ile) | |
| 5 | g.37020635C>A | CA359487369 | NIPBL | c.5187C>A (p.Ser1729Arg) c.1-43943C>A (n.1-43943C>A) c.4443C>A (p.Ser1481Arg) c.4989C>A (p.Ser1663Arg) c.4806C>A (p.Ser1602Arg) c.4527C>A (p.Ser1509Arg) c.3570C>A (p.Ser1190Arg) c.3561C>A (p.Ser1187Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.37020635C= | CA1539584040 | NIPBL | c.5187C= (p.Ser1729=) c.1-43943C= (n.1-43943C=) c.4443C= (p.Ser1481=) c.4989C= (p.Ser1663=) c.4806C= (p.Ser1602=) c.4527C= (p.Ser1509=) c.3570C= (p.Ser1190=) c.3561C= (p.Ser1187=) | |
| 5 | g.37020635C>G | CA359487371 | NIPBL | c.5187C>G (p.Ser1729Arg) c.1-43943C>G (n.1-43943C>G) c.4443C>G (p.Ser1481Arg) c.4989C>G (p.Ser1663Arg) c.4806C>G (p.Ser1602Arg) c.4527C>G (p.Ser1509Arg) c.3570C>G (p.Ser1190Arg) c.3561C>G (p.Ser1187Arg) | |
| 5 | g.37020635C>T | CA117028018 | NIPBL | c.5187C>T (p.Ser1729=) c.1-43943C>T (n.1-43943C>T) c.4443C>T (p.Ser1481=) c.4989C>T (p.Ser1663=) c.4806C>T (p.Ser1602=) c.4527C>T (p.Ser1509=) c.3570C>T (p.Ser1190=) c.3561C>T (p.Ser1187=) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.37020636A= | CA1539584052 | NIPBL | c.5188A= (p.Ile1730=) c.1-43942A= (n.1-43942A=) c.4444A= (p.Ile1482=) c.4990A= (p.Ile1664=) c.4807A= (p.Ile1603=) c.4528A= (p.Ile1510=) c.3571A= (p.Ile1191=) c.3562A= (p.Ile1188=) | |
| 5 | g.37020636A>C | CA359487374 | NIPBL | c.5188A>C (p.Ile1730Leu) c.1-43942A>C (n.1-43942A>C) c.4444A>C (p.Ile1482Leu) c.4990A>C (p.Ile1664Leu) c.4807A>C (p.Ile1603Leu) c.4528A>C (p.Ile1510Leu) c.3571A>C (p.Ile1191Leu) c.3562A>C (p.Ile1188Leu) | |
| 5 | g.37020636A>G | CA3236709 | NIPBL | c.5188A>G (p.Ile1730Val) c.1-43942A>G (n.1-43942A>G) c.4444A>G (p.Ile1482Val) c.4990A>G (p.Ile1664Val) c.4807A>G (p.Ile1603Val) c.4528A>G (p.Ile1510Val) c.3571A>G (p.Ile1191Val) c.3562A>G (p.Ile1188Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.37020636A>T | CA359487379 | NIPBL | c.5188A>T (p.Ile1730Phe) c.1-43942A>T (n.1-43942A>T) c.4444A>T (p.Ile1482Phe) c.4990A>T (p.Ile1664Phe) c.4807A>T (p.Ile1603Phe) c.4528A>T (p.Ile1510Phe) c.3571A>T (p.Ile1191Phe) c.3562A>T (p.Ile1188Phe) | |
| 5 | g.37020637T>A | CA359487382 | NIPBL | c.5189T>A (p.Ile1730Asn) c.1-43941T>A (n.1-43941T>A) c.4445T>A (p.Ile1482Asn) c.4991T>A (p.Ile1664Asn) c.4808T>A (p.Ile1603Asn) c.4529T>A (p.Ile1510Asn) c.3572T>A (p.Ile1191Asn) c.3563T>A (p.Ile1188Asn) | |
| 5 | g.37020637T>C | CA359487385 | NIPBL | c.5189T>C (p.Ile1730Thr) c.1-43941T>C (n.1-43941T>C) c.4445T>C (p.Ile1482Thr) c.4991T>C (p.Ile1664Thr) c.4808T>C (p.Ile1603Thr) c.4529T>C (p.Ile1510Thr) c.3572T>C (p.Ile1191Thr) c.3563T>C (p.Ile1188Thr) | |
| 5 | g.37020637T>G | CA359487387 | NIPBL | c.5189T>G (p.Ile1730Ser) c.1-43941T>G (n.1-43941T>G) c.4445T>G (p.Ile1482Ser) c.4991T>G (p.Ile1664Ser) c.4808T>G (p.Ile1603Ser) c.4529T>G (p.Ile1510Ser) c.3572T>G (p.Ile1191Ser) c.3563T>G (p.Ile1188Ser) | |
| 5 | g.37020638T>A | CA443905101 | NIPBL | c.5190T>A (p.Ile1730=) c.1-43940T>A (n.1-43940T>A) c.4446T>A (p.Ile1482=) c.4992T>A (p.Ile1664=) c.4809T>A (p.Ile1603=) c.4530T>A (p.Ile1510=) c.3573T>A (p.Ile1191=) c.3564T>A (p.Ile1188=) | |
| 5 | g.37020638T>C | CA443905102 | NIPBL | c.5190T>C (p.Ile1730=) c.1-43940T>C (n.1-43940T>C) c.4446T>C (p.Ile1482=) c.4992T>C (p.Ile1664=) c.4809T>C (p.Ile1603=) c.4530T>C (p.Ile1510=) c.3573T>C (p.Ile1191=) c.3564T>C (p.Ile1188=) | |
| 5 | g.37020638T>G | CA359487388 | NIPBL | c.5190T>G (p.Ile1730Met) c.1-43940T>G (n.1-43940T>G) c.4446T>G (p.Ile1482Met) c.4992T>G (p.Ile1664Met) c.4809T>G (p.Ile1603Met) c.4530T>G (p.Ile1510Met) c.3573T>G (p.Ile1191Met) c.3564T>G (p.Ile1188Met) | |
| 5 | g.37020639A= | CA1539584056 | NIPBL | c.5191A= (p.Ile1731=) c.1-43939A= (n.1-43939A=) c.4447A= (p.Ile1483=) c.4993A= (p.Ile1665=) c.4810A= (p.Ile1604=) c.4531A= (p.Ile1511=) c.3574A= (p.Ile1192=) c.3565A= (p.Ile1189=) | |
| 5 | g.37020639A>C | CA359487391 | NIPBL | c.5191A>C (p.Ile1731Leu) c.1-43939A>C (n.1-43939A>C) c.4447A>C (p.Ile1483Leu) c.4993A>C (p.Ile1665Leu) c.4810A>C (p.Ile1604Leu) c.4531A>C (p.Ile1511Leu) c.3574A>C (p.Ile1192Leu) c.3565A>C (p.Ile1189Leu) | |
| 5 | g.37020639A>G | CA3236710 | NIPBL | c.5191A>G (p.Ile1731Val) c.1-43939A>G (n.1-43939A>G) c.4447A>G (p.Ile1483Val) c.4993A>G (p.Ile1665Val) c.4810A>G (p.Ile1604Val) c.4531A>G (p.Ile1511Val) c.3574A>G (p.Ile1192Val) c.3565A>G (p.Ile1189Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.37020639A>T | CA359487393 | NIPBL | c.5191A>T (p.Ile1731Phe) c.1-43939A>T (n.1-43939A>T) c.4447A>T (p.Ile1483Phe) c.4993A>T (p.Ile1665Phe) c.4810A>T (p.Ile1604Phe) c.4531A>T (p.Ile1511Phe) c.3574A>T (p.Ile1192Phe) c.3565A>T (p.Ile1189Phe) | |
| 5 | g.37020640T>A | CA359487399 | NIPBL | c.5192T>A (p.Ile1731Asn) c.1-43938T>A (n.1-43938T>A) c.4448T>A (p.Ile1483Asn) c.4994T>A (p.Ile1665Asn) c.4811T>A (p.Ile1604Asn) c.4532T>A (p.Ile1511Asn) c.3575T>A (p.Ile1192Asn) c.3566T>A (p.Ile1189Asn) | |
| 5 | g.37020640T>C | CA359487406 | NIPBL | c.5192T>C (p.Ile1731Thr) c.1-43938T>C (n.1-43938T>C) c.4448T>C (p.Ile1483Thr) c.4994T>C (p.Ile1665Thr) c.4811T>C (p.Ile1604Thr) c.4532T>C (p.Ile1511Thr) c.3575T>C (p.Ile1192Thr) c.3566T>C (p.Ile1189Thr) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.37020640T>G | CA359487404 | NIPBL | c.5192T>G (p.Ile1731Ser) c.1-43938T>G (n.1-43938T>G) c.4448T>G (p.Ile1483Ser) c.4994T>G (p.Ile1665Ser) c.4811T>G (p.Ile1604Ser) c.4532T>G (p.Ile1511Ser) c.3575T>G (p.Ile1192Ser) c.3566T>G (p.Ile1189Ser) | |
| 5 | g.37020640T= | CA1539584060 | NIPBL | c.5192T= (p.Ile1731=) c.1-43938T= (n.1-43938T=) c.4448T= (p.Ile1483=) c.4994T= (p.Ile1665=) c.4811T= (p.Ile1604=) c.4532T= (p.Ile1511=) c.3575T= (p.Ile1192=) c.3566T= (p.Ile1189=) | |
| 5 | g.37020641C>A | CA443905106 | NIPBL | c.5193C>A (p.Ile1731=) c.1-43937C>A (n.1-43937C>A) c.4449C>A (p.Ile1483=) c.4995C>A (p.Ile1665=) c.4812C>A (p.Ile1604=) c.4533C>A (p.Ile1511=) c.3576C>A (p.Ile1192=) c.3567C>A (p.Ile1189=) | |
| 5 | g.37020641C>G | CA359487413 | NIPBL | c.5193C>G (p.Ile1731Met) c.1-43937C>G (n.1-43937C>G) c.4449C>G (p.Ile1483Met) c.4995C>G (p.Ile1665Met) c.4812C>G (p.Ile1604Met) c.4533C>G (p.Ile1511Met) c.3576C>G (p.Ile1192Met) c.3567C>G (p.Ile1189Met) | |
| 5 | g.37020641C>T | CA443905107 | NIPBL | c.5193C>T (p.Ile1731=) c.1-43937C>T (n.1-43937C>T) c.4449C>T (p.Ile1483=) c.4995C>T (p.Ile1665=) c.4812C>T (p.Ile1604=) c.4533C>T (p.Ile1511=) c.3576C>T (p.Ile1192=) c.3567C>T (p.Ile1189=) | |
| 5 | g.37020642A>C | CA359487414 | NIPBL | c.5194A>C (p.Lys1732Gln) c.1-43936A>C (n.1-43936A>C) c.4450A>C (p.Lys1484Gln) c.4996A>C (p.Lys1666Gln) c.4813A>C (p.Lys1605Gln) c.4534A>C (p.Lys1512Gln) c.3577A>C (p.Lys1193Gln) c.3568A>C (p.Lys1190Gln) | |
| 5 | g.37020642A>G | CA359487416 | NIPBL | c.5194A>G (p.Lys1732Glu) c.1-43936A>G (n.1-43936A>G) c.4450A>G (p.Lys1484Glu) c.4996A>G (p.Lys1666Glu) c.4813A>G (p.Lys1605Glu) c.4534A>G (p.Lys1512Glu) c.3577A>G (p.Lys1193Glu) c.3568A>G (p.Lys1190Glu) | |
| 5 | g.37020642A>T | CA359487418 | NIPBL | c.5194A>T (p.Lys1732Ter) c.1-43936A>T (n.1-43936A>T) c.4450A>T (p.Lys1484Ter) c.4996A>T (p.Lys1666Ter) c.4813A>T (p.Lys1605Ter) c.4534A>T (p.Lys1512Ter) c.3577A>T (p.Lys1193Ter) c.3568A>T (p.Lys1190Ter) | |
| 5 | g.37020643A= | CA1539584071 | NIPBL | c.5195A= (p.Lys1732=) c.1-43935A= (n.1-43935A=) c.4451A= (p.Lys1484=) c.4997A= (p.Lys1666=) c.4814A= (p.Lys1605=) c.4535A= (p.Lys1512=) c.3578A= (p.Lys1193=) c.3569A= (p.Lys1190=) | |
| 5 | g.37020643A>C | CA359487419 | NIPBL | c.5195A>C (p.Lys1732Thr) c.1-43935A>C (n.1-43935A>C) c.4451A>C (p.Lys1484Thr) c.4997A>C (p.Lys1666Thr) c.4814A>C (p.Lys1605Thr) c.4535A>C (p.Lys1512Thr) c.3578A>C (p.Lys1193Thr) c.3569A>C (p.Lys1190Thr) | |
| 5 | g.37020643A>G | CA3236711 | NIPBL | c.5195A>G (p.Lys1732Arg) c.1-43935A>G (n.1-43935A>G) c.4451A>G (p.Lys1484Arg) c.4997A>G (p.Lys1666Arg) c.4814A>G (p.Lys1605Arg) c.4535A>G (p.Lys1512Arg) c.3578A>G (p.Lys1193Arg) c.3569A>G (p.Lys1190Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.37020643A>T | CA359487423 | NIPBL | c.5195A>T (p.Lys1732Ile) c.1-43935A>T (n.1-43935A>T) c.4451A>T (p.Lys1484Ile) c.4997A>T (p.Lys1666Ile) c.4814A>T (p.Lys1605Ile) c.4535A>T (p.Lys1512Ile) c.3578A>T (p.Lys1193Ile) c.3569A>T (p.Lys1190Ile) | |
| 5 | g.37020644A>C | CA359487427 | NIPBL | c.5196A>C (p.Lys1732Asn) c.1-43934A>C (n.1-43934A>C) c.4452A>C (p.Lys1484Asn) c.4998A>C (p.Lys1666Asn) c.4815A>C (p.Lys1605Asn) c.4536A>C (p.Lys1512Asn) c.3579A>C (p.Lys1193Asn) c.3570A>C (p.Lys1190Asn) | |
| 5 | g.37020644A>G | CA443905109 | NIPBL | c.5196A>G (p.Lys1732=) c.1-43934A>G (n.1-43934A>G) c.4452A>G (p.Lys1484=) c.4998A>G (p.Lys1666=) c.4815A>G (p.Lys1605=) c.4536A>G (p.Lys1512=) c.3579A>G (p.Lys1193=) c.3570A>G (p.Lys1190=) | |
| 5 | g.37020644A>T | CA359487429 | NIPBL | c.5196A>T (p.Lys1732Asn) c.1-43934A>T (n.1-43934A>T) c.4452A>T (p.Lys1484Asn) c.4998A>T (p.Lys1666Asn) c.4815A>T (p.Lys1605Asn) c.4536A>T (p.Lys1512Asn) c.3579A>T (p.Lys1193Asn) c.3570A>T (p.Lys1190Asn) | |
| 5 | g.37020645A= | CA1539584083 | NIPBL | c.5197A= (p.Thr1733=) c.1-43933A= (n.1-43933A=) c.4453A= (p.Thr1485=) c.4999A= (p.Thr1667=) c.4816A= (p.Thr1606=) c.4537A= (p.Thr1513=) c.3580A= (p.Thr1194=) c.3571A= (p.Thr1191=) | |
| 5 | g.37020645A>C | CA359487432 | NIPBL | c.5197A>C (p.Thr1733Pro) c.1-43933A>C (n.1-43933A>C) c.4453A>C (p.Thr1485Pro) c.4999A>C (p.Thr1667Pro) c.4816A>C (p.Thr1606Pro) c.4537A>C (p.Thr1513Pro) c.3580A>C (p.Thr1194Pro) c.3571A>C (p.Thr1191Pro) | |
| 5 | g.37020645A>G | CA359487434 | NIPBL | c.5197A>G (p.Thr1733Ala) c.1-43933A>G (n.1-43933A>G) c.4453A>G (p.Thr1485Ala) c.4999A>G (p.Thr1667Ala) c.4816A>G (p.Thr1606Ala) c.4537A>G (p.Thr1513Ala) c.3580A>G (p.Thr1194Ala) c.3571A>G (p.Thr1191Ala) | |
| 5 | g.37020645A>T | CA3236712 | NIPBL | c.5197A>T (p.Thr1733Ser) c.1-43933A>T (n.1-43933A>T) c.4453A>T (p.Thr1485Ser) c.4999A>T (p.Thr1667Ser) c.4816A>T (p.Thr1606Ser) c.4537A>T (p.Thr1513Ser) c.3580A>T (p.Thr1194Ser) c.3571A>T (p.Thr1191Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.37020646C>A | CA359487439 | NIPBL | c.5198C>A (p.Thr1733Asn) c.1-43932C>A (n.1-43932C>A) c.4454C>A (p.Thr1485Asn) c.5000C>A (p.Thr1667Asn) c.4817C>A (p.Thr1606Asn) c.4538C>A (p.Thr1513Asn) c.3581C>A (p.Thr1194Asn) c.3572C>A (p.Thr1191Asn) | |
| 5 | g.37020646C= | CA1539584089 | NIPBL | c.5198C= (p.Thr1733=) c.1-43932C= (n.1-43932C=) c.4454C= (p.Thr1485=) c.5000C= (p.Thr1667=) c.4817C= (p.Thr1606=) c.4538C= (p.Thr1513=) c.3581C= (p.Thr1194=) c.3572C= (p.Thr1191=) | |
| 5 | g.37020646C>G | CA359487436 | NIPBL | c.5198C>G (p.Thr1733Ser) c.1-43932C>G (n.1-43932C>G) c.4454C>G (p.Thr1485Ser) c.5000C>G (p.Thr1667Ser) c.4817C>G (p.Thr1606Ser) c.4538C>G (p.Thr1513Ser) c.3581C>G (p.Thr1194Ser) c.3572C>G (p.Thr1191Ser) | |
| 5 | g.37020646C>T | CA3236713 | NIPBL | c.5198C>T (p.Thr1733Ile) c.1-43932C>T (n.1-43932C>T) c.4454C>T (p.Thr1485Ile) c.5000C>T (p.Thr1667Ile) c.4817C>T (p.Thr1606Ile) c.4538C>T (p.Thr1513Ile) c.3581C>T (p.Thr1194Ile) c.3572C>T (p.Thr1191Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.37020647C>A | CA443905112 | NIPBL | c.5199C>A (p.Thr1733=) c.1-43931C>A (n.1-43931C>A) c.4455C>A (p.Thr1485=) c.5001C>A (p.Thr1667=) c.4818C>A (p.Thr1606=) c.4539C>A (p.Thr1513=) c.3582C>A (p.Thr1194=) c.3573C>A (p.Thr1191=) | |
| 5 | g.37020647C= | CA1539584096 | NIPBL | c.5199C= (p.Thr1733=) c.1-43931C= (n.1-43931C=) c.4455C= (p.Thr1485=) c.5001C= (p.Thr1667=) c.4818C= (p.Thr1606=) c.4539C= (p.Thr1513=) c.3582C= (p.Thr1194=) c.3573C= (p.Thr1191=) | |
| 5 | g.37020647C>G | CA443905111 | NIPBL | c.5199C>G (p.Thr1733=) c.1-43931C>G (n.1-43931C>G) c.4455C>G (p.Thr1485=) c.5001C>G (p.Thr1667=) c.4818C>G (p.Thr1606=) c.4539C>G (p.Thr1513=) c.3582C>G (p.Thr1194=) c.3573C>G (p.Thr1191=) | |
| 5 | g.37020647C>T | CA443905110 | NIPBL | c.5199C>T (p.Thr1733=) c.1-43931C>T (n.1-43931C>T) c.4455C>T (p.Thr1485=) c.5001C>T (p.Thr1667=) c.4818C>T (p.Thr1606=) c.4539C>T (p.Thr1513=) c.3582C>T (p.Thr1194=) c.3573C>T (p.Thr1191=) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.37020648A>C | CA359487442 | NIPBL | c.5200A>C (p.Thr1734Pro) c.1-43930A>C (n.1-43930A>C) c.4456A>C (p.Thr1486Pro) c.5002A>C (p.Thr1668Pro) c.4819A>C (p.Thr1607Pro) c.4540A>C (p.Thr1514Pro) c.3583A>C (p.Thr1195Pro) c.3574A>C (p.Thr1192Pro) | |
| 5 | g.37020648A>G | CA359487451 | NIPBL | c.5200A>G (p.Thr1734Ala) c.1-43930A>G (n.1-43930A>G) c.4456A>G (p.Thr1486Ala) c.5002A>G (p.Thr1668Ala) c.4819A>G (p.Thr1607Ala) c.4540A>G (p.Thr1514Ala) c.3583A>G (p.Thr1195Ala) c.3574A>G (p.Thr1192Ala) | |
| 5 | g.37020648A>T | CA359487454 | NIPBL | c.5200A>T (p.Thr1734Ser) c.1-43930A>T (n.1-43930A>T) c.4456A>T (p.Thr1486Ser) c.5002A>T (p.Thr1668Ser) c.4819A>T (p.Thr1607Ser) c.4540A>T (p.Thr1514Ser) c.3583A>T (p.Thr1195Ser) c.3574A>T (p.Thr1192Ser) | |
| 5 | g.37020649C>A | CA359487457 | NIPBL | c.5201C>A (p.Thr1734Lys) c.1-43929C>A (n.1-43929C>A) c.4457C>A (p.Thr1486Lys) c.5003C>A (p.Thr1668Lys) c.4820C>A (p.Thr1607Lys) c.4541C>A (p.Thr1514Lys) c.3584C>A (p.Thr1195Lys) c.3575C>A (p.Thr1192Lys) | |
| 5 | g.37020649C>G | CA359487461 | NIPBL | c.5201C>G (p.Thr1734Arg) c.1-43929C>G (n.1-43929C>G) c.4457C>G (p.Thr1486Arg) c.5003C>G (p.Thr1668Arg) c.4820C>G (p.Thr1607Arg) c.4541C>G (p.Thr1514Arg) c.3584C>G (p.Thr1195Arg) c.3575C>G (p.Thr1192Arg) | |
| 5 | g.37020649C>T | CA359487463 | NIPBL | c.5201C>T (p.Thr1734Ile) c.1-43929C>T (n.1-43929C>T) c.4457C>T (p.Thr1486Ile) c.5003C>T (p.Thr1668Ile) c.4820C>T (p.Thr1607Ile) c.4541C>T (p.Thr1514Ile) c.3584C>T (p.Thr1195Ile) c.3575C>T (p.Thr1192Ile) | gnomAD v4 |
| 5 | g.37020650A>C | CA443905113 | NIPBL | c.5202A>C (p.Thr1734=) c.1-43928A>C (n.1-43928A>C) c.4458A>C (p.Thr1486=) c.5004A>C (p.Thr1668=) c.4821A>C (p.Thr1607=) c.4542A>C (p.Thr1514=) c.3585A>C (p.Thr1195=) c.3576A>C (p.Thr1192=) | |
| 5 | g.37020650A>G | CA443905115 | NIPBL | c.5202A>G (p.Thr1734=) c.1-43928A>G (n.1-43928A>G) c.4458A>G (p.Thr1486=) c.5004A>G (p.Thr1668=) c.4821A>G (p.Thr1607=) c.4542A>G (p.Thr1514=) c.3585A>G (p.Thr1195=) c.3576A>G (p.Thr1192=) | gnomAD v4 |
| 5 | g.37020650A>T | CA443905114 | NIPBL | c.5202A>T (p.Thr1734=) c.1-43928A>T (n.1-43928A>T) c.4458A>T (p.Thr1486=) c.5004A>T (p.Thr1668=) c.4821A>T (p.Thr1607=) c.4542A>T (p.Thr1514=) c.3585A>T (p.Thr1195=) c.3576A>T (p.Thr1192=) | |
| 5 | g.37020651C>A | CA359487466 | NIPBL | c.5203C>A (p.Pro1735Thr) c.1-43927C>A (n.1-43927C>A) c.4459C>A (p.Pro1487Thr) c.5005C>A (p.Pro1669Thr) c.4822C>A (p.Pro1608Thr) c.4543C>A (p.Pro1515Thr) c.3586C>A (p.Pro1196Thr) c.3577C>A (p.Pro1193Thr) | |
| 5 | g.37020651C>G | CA359487467 | NIPBL | c.5203C>G (p.Pro1735Ala) c.1-43927C>G (n.1-43927C>G) c.4459C>G (p.Pro1487Ala) c.5005C>G (p.Pro1669Ala) c.4822C>G (p.Pro1608Ala) c.4543C>G (p.Pro1515Ala) c.3586C>G (p.Pro1196Ala) c.3577C>G (p.Pro1193Ala) | |
| 5 | g.37020651C>T | CA359487468 | NIPBL | c.5203C>T (p.Pro1735Ser) c.1-43927C>T (n.1-43927C>T) c.4459C>T (p.Pro1487Ser) c.5005C>T (p.Pro1669Ser) c.4822C>T (p.Pro1608Ser) c.4543C>T (p.Pro1515Ser) c.3586C>T (p.Pro1196Ser) c.3577C>T (p.Pro1193Ser) | |
| 5 | g.37020652C>A | CA359487469 | NIPBL | c.5204C>A (p.Pro1735His) c.1-43926C>A (n.1-43926C>A) c.4460C>A (p.Pro1487His) c.5006C>A (p.Pro1669His) c.4823C>A (p.Pro1608His) c.4544C>A (p.Pro1515His) c.3587C>A (p.Pro1196His) c.3578C>A (p.Pro1193His) | |
| 5 | g.37020652C= | CA1539584101 | NIPBL | c.5204C= (p.Pro1735=) c.1-43926C= (n.1-43926C=) c.4460C= (p.Pro1487=) c.5006C= (p.Pro1669=) c.4823C= (p.Pro1608=) c.4544C= (p.Pro1515=) c.3587C= (p.Pro1196=) c.3578C= (p.Pro1193=) | |
| 5 | g.37020652C>G | CA359487470 | NIPBL | c.5204C>G (p.Pro1735Arg) c.1-43926C>G (n.1-43926C>G) c.4460C>G (p.Pro1487Arg) c.5006C>G (p.Pro1669Arg) c.4823C>G (p.Pro1608Arg) c.4544C>G (p.Pro1515Arg) c.3587C>G (p.Pro1196Arg) c.3578C>G (p.Pro1193Arg) | dbSNP gnomAD v4 |
| 5 | g.37020652C>T | CA359487472 | NIPBL | c.5204C>T (p.Pro1735Leu) c.1-43926C>T (n.1-43926C>T) c.4460C>T (p.Pro1487Leu) c.5006C>T (p.Pro1669Leu) c.4823C>T (p.Pro1608Leu) c.4544C>T (p.Pro1515Leu) c.3587C>T (p.Pro1196Leu) c.3578C>T (p.Pro1193Leu) | |
| 5 | g.37020654_37020656del | CA2673553369 | NIPBL | c.5206_5208del (p.Ser1736del) c.1-43924_1-43922del (n.1-43924_1-43922del) c.4462_4464del (p.Ser1488del) c.5008_5010del (p.Ser1670del) c.4825_4827del (p.Ser1609del) c.4546_4548del (p.Ser1516del) c.3589_3591del (p.Ser1197del) c.3580_3582del (p.Ser1194del) | gnomAD v4 |
| 5 | g.37020653T>A | CA443905117 | NIPBL | c.5205T>A (p.Pro1735=) c.1-43925T>A (n.1-43925T>A) c.4461T>A (p.Pro1487=) c.5007T>A (p.Pro1669=) c.4824T>A (p.Pro1608=) c.4545T>A (p.Pro1515=) c.3588T>A (p.Pro1196=) c.3579T>A (p.Pro1193=) | |
| 5 | g.37020653T>C | CA443905118 | NIPBL | c.5205T>C (p.Pro1735=) c.1-43925T>C (n.1-43925T>C) c.4461T>C (p.Pro1487=) c.5007T>C (p.Pro1669=) c.4824T>C (p.Pro1608=) c.4545T>C (p.Pro1515=) c.3588T>C (p.Pro1196=) c.3579T>C (p.Pro1193=) | |
| 5 | g.37020653T>G | CA443905119 | NIPBL | c.5205T>G (p.Pro1735=) c.1-43925T>G (n.1-43925T>G) c.4461T>G (p.Pro1487=) c.5007T>G (p.Pro1669=) c.4824T>G (p.Pro1608=) c.4545T>G (p.Pro1515=) c.3588T>G (p.Pro1196=) c.3579T>G (p.Pro1193=) | |
| 5 | g.37020655_37020670del | CA2695204348 | NIPBL | c.5207_5222del (p.Ser1736Ter) c.1-43923_1-43908del (n.1-43923_1-43908del) c.4463_4478del (p.Ser1488Ter) c.5009_5024del (p.Ser1670Ter) c.4826_4841del (p.Ser1609Ter) c.4547_4562del (p.Ser1516Ter) c.3590_3605del (p.Ser1197Ter) c.3581_3596del (p.Ser1194Ter) | |
| 5 | g.37020654T>A | CA359487475 | NIPBL | c.5206T>A (p.Ser1736Thr) c.1-43924T>A (n.1-43924T>A) c.4462T>A (p.Ser1488Thr) c.5008T>A (p.Ser1670Thr) c.4825T>A (p.Ser1609Thr) c.4546T>A (p.Ser1516Thr) c.3589T>A (p.Ser1197Thr) c.3580T>A (p.Ser1194Thr) | |
| 5 | g.37020654T>C | CA359487486 | NIPBL | c.5206T>C (p.Ser1736Pro) c.1-43924T>C (n.1-43924T>C) c.4462T>C (p.Ser1488Pro) c.5008T>C (p.Ser1670Pro) c.4825T>C (p.Ser1609Pro) c.4546T>C (p.Ser1516Pro) c.3589T>C (p.Ser1197Pro) c.3580T>C (p.Ser1194Pro) | |
| 5 | g.37020654T>G | CA359487483 | NIPBL | c.5206T>G (p.Ser1736Ala) c.1-43924T>G (n.1-43924T>G) c.4462T>G (p.Ser1488Ala) c.5008T>G (p.Ser1670Ala) c.4825T>G (p.Ser1609Ala) c.4546T>G (p.Ser1516Ala) c.3589T>G (p.Ser1197Ala) c.3580T>G (p.Ser1194Ala) | |
| 5 | g.37020655C>A | CA359487495 | NIPBL | c.5207C>A (p.Ser1736Tyr) c.1-43923C>A (n.1-43923C>A) c.4463C>A (p.Ser1488Tyr) c.5009C>A (p.Ser1670Tyr) c.4826C>A (p.Ser1609Tyr) c.4547C>A (p.Ser1516Tyr) c.3590C>A (p.Ser1197Tyr) c.3581C>A (p.Ser1194Tyr) | |
| 5 | g.37020655C= | CA1539584112 | NIPBL | c.5207C= (p.Ser1736=) c.1-43923C= (n.1-43923C=) c.4463C= (p.Ser1488=) c.5009C= (p.Ser1670=) c.4826C= (p.Ser1609=) c.4547C= (p.Ser1516=) c.3590C= (p.Ser1197=) c.3581C= (p.Ser1194=) | |
| 5 | g.37020655C>G | CA359487499 | NIPBL | c.5207C>G (p.Ser1736Cys) c.1-43923C>G (n.1-43923C>G) c.4463C>G (p.Ser1488Cys) c.5009C>G (p.Ser1670Cys) c.4826C>G (p.Ser1609Cys) c.4547C>G (p.Ser1516Cys) c.3590C>G (p.Ser1197Cys) c.3581C>G (p.Ser1194Cys) | |
| 5 | g.37020655C>T | CA3236714 | NIPBL | c.5207C>T (p.Ser1736Phe) c.1-43923C>T (n.1-43923C>T) c.4463C>T (p.Ser1488Phe) c.5009C>T (p.Ser1670Phe) c.4826C>T (p.Ser1609Phe) c.4547C>T (p.Ser1516Phe) c.3590C>T (p.Ser1197Phe) c.3581C>T (p.Ser1194Phe) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.37020656T>A | CA443905120 | NIPBL | c.5208T>A (p.Ser1736=) c.1-43922T>A (n.1-43922T>A) c.4464T>A (p.Ser1488=) c.5010T>A (p.Ser1670=) c.4827T>A (p.Ser1609=) c.4548T>A (p.Ser1516=) c.3591T>A (p.Ser1197=) c.3582T>A (p.Ser1194=) | |
| 5 | g.37020656T>C | CA443905121 | NIPBL | c.5208T>C (p.Ser1736=) c.1-43922T>C (n.1-43922T>C) c.4464T>C (p.Ser1488=) c.5010T>C (p.Ser1670=) c.4827T>C (p.Ser1609=) c.4548T>C (p.Ser1516=) c.3591T>C (p.Ser1197=) c.3582T>C (p.Ser1194=) | dbSNP |
| 5 | g.37020656T>G | CA443905122 | NIPBL | c.5208T>G (p.Ser1736=) c.1-43922T>G (n.1-43922T>G) c.4464T>G (p.Ser1488=) c.5010T>G (p.Ser1670=) c.4827T>G (p.Ser1609=) c.4548T>G (p.Ser1516=) c.3591T>G (p.Ser1197=) c.3582T>G (p.Ser1194=) | |
| 5 | g.37020656T= | CA1539584115 | NIPBL | c.5208T= (p.Ser1736=) c.1-43922T= (n.1-43922T=) c.4464T= (p.Ser1488=) c.5010T= (p.Ser1670=) c.4827T= (p.Ser1609=) c.4548T= (p.Ser1516=) c.3591T= (p.Ser1197=) c.3582T= (p.Ser1194=) | |
| 5 | g.37020657C>A | CA359487503 | NIPBL | c.5209C>A (p.Gln1737Lys) c.1-43921C>A (n.1-43921C>A) c.4465C>A (p.Gln1489Lys) c.5011C>A (p.Gln1671Lys) c.4828C>A (p.Gln1610Lys) c.4549C>A (p.Gln1517Lys) c.3592C>A (p.Gln1198Lys) c.3583C>A (p.Gln1195Lys) | |
| 5 | g.37020657C>G | CA359487506 | NIPBL | c.5209C>G (p.Gln1737Glu) c.1-43921C>G (n.1-43921C>G) c.4465C>G (p.Gln1489Glu) c.5011C>G (p.Gln1671Glu) c.4828C>G (p.Gln1610Glu) c.4549C>G (p.Gln1517Glu) c.3592C>G (p.Gln1198Glu) c.3583C>G (p.Gln1195Glu) | |
| 5 | g.37020657C>T | CA359487509 | NIPBL | c.5209C>T (p.Gln1737Ter) c.1-43921C>T (n.1-43921C>T) c.4465C>T (p.Gln1489Ter) c.5011C>T (p.Gln1671Ter) c.4828C>T (p.Gln1610Ter) c.4549C>T (p.Gln1517Ter) c.3592C>T (p.Gln1198Ter) c.3583C>T (p.Gln1195Ter) | |
| 5 | g.37020658A= | CA1539584117 | NIPBL | c.5210A= (p.Gln1737=) c.1-43920A= (n.1-43920A=) c.4466A= (p.Gln1489=) c.5012A= (p.Gln1671=) c.4829A= (p.Gln1610=) c.4550A= (p.Gln1517=) c.3593A= (p.Gln1198=) c.3584A= (p.Gln1195=) | |
| 5 | g.37020658A>C | CA359487511 | NIPBL | c.5210A>C (p.Gln1737Pro) c.1-43920A>C (n.1-43920A>C) c.4466A>C (p.Gln1489Pro) c.5012A>C (p.Gln1671Pro) c.4829A>C (p.Gln1610Pro) c.4550A>C (p.Gln1517Pro) c.3593A>C (p.Gln1198Pro) c.3584A>C (p.Gln1195Pro) | |
| 5 | g.37020658A>G | CA3236715 | NIPBL | c.5210A>G (p.Gln1737Arg) c.1-43920A>G (n.1-43920A>G) c.4466A>G (p.Gln1489Arg) c.5012A>G (p.Gln1671Arg) c.4829A>G (p.Gln1610Arg) c.4550A>G (p.Gln1517Arg) c.3593A>G (p.Gln1198Arg) c.3584A>G (p.Gln1195Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.37020658A>T | CA359487519 | NIPBL | c.5210A>T (p.Gln1737Leu) c.1-43920A>T (n.1-43920A>T) c.4466A>T (p.Gln1489Leu) c.5012A>T (p.Gln1671Leu) c.4829A>T (p.Gln1610Leu) c.4550A>T (p.Gln1517Leu) c.3593A>T (p.Gln1198Leu) c.3584A>T (p.Gln1195Leu) | |
| 5 | g.37020659G>A | CA172712 | NIPBL | c.5211G>A (p.Gln1737=) c.1-43919G>A (n.1-43919G>A) c.4467G>A (p.Gln1489=) c.5013G>A (p.Gln1671=) c.4830G>A (p.Gln1610=) c.4551G>A (p.Gln1517=) c.3594G>A (p.Gln1198=) c.3585G>A (p.Gln1195=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.37020659G>C | CA359487524 | NIPBL | c.5211G>C (p.Gln1737His) c.1-43919G>C (n.1-43919G>C) c.4467G>C (p.Gln1489His) c.5013G>C (p.Gln1671His) c.4830G>C (p.Gln1610His) c.4551G>C (p.Gln1517His) c.3594G>C (p.Gln1198His) c.3585G>C (p.Gln1195His) | |
| 5 | g.37020659G= | CA1539584125 | NIPBL | c.5211G= (p.Gln1737=) c.1-43919G= (n.1-43919G=) c.4467G= (p.Gln1489=) c.5013G= (p.Gln1671=) c.4830G= (p.Gln1610=) c.4551G= (p.Gln1517=) c.3594G= (p.Gln1198=) c.3585G= (p.Gln1195=) | |
| 5 | g.37020659G>T | CA359487527 | NIPBL | c.5211G>T (p.Gln1737His) c.1-43919G>T (n.1-43919G>T) c.4467G>T (p.Gln1489His) c.5013G>T (p.Gln1671His) c.4830G>T (p.Gln1610His) c.4551G>T (p.Gln1517His) c.3594G>T (p.Gln1198His) c.3585G>T (p.Gln1195His) | |
| 5 | g.37020660T>A | CA359487529 | NIPBL | c.5212T>A (p.Phe1738Ile) c.1-43918T>A (n.1-43918T>A) c.4468T>A (p.Phe1490Ile) c.5014T>A (p.Phe1672Ile) c.4831T>A (p.Phe1611Ile) c.4552T>A (p.Phe1518Ile) c.3595T>A (p.Phe1199Ile) c.3586T>A (p.Phe1196Ile) | |
| 5 | g.37020660T>C | CA359487530 | NIPBL | c.5212T>C (p.Phe1738Leu) c.1-43918T>C (n.1-43918T>C) c.4468T>C (p.Phe1490Leu) c.5014T>C (p.Phe1672Leu) c.4831T>C (p.Phe1611Leu) c.4552T>C (p.Phe1518Leu) c.3595T>C (p.Phe1199Leu) c.3586T>C (p.Phe1196Leu) | |
| 5 | g.37020660T>G | CA359487531 | NIPBL | c.5212T>G (p.Phe1738Val) c.1-43918T>G (n.1-43918T>G) c.4468T>G (p.Phe1490Val) c.5014T>G (p.Phe1672Val) c.4831T>G (p.Phe1611Val) c.4552T>G (p.Phe1518Val) c.3595T>G (p.Phe1199Val) c.3586T>G (p.Phe1196Val) | |
| 5 | g.37020662dup | CA333577 | NIPBL | c.5214dup (p.Ser1739Ter) c.1-43916dup (n.1-43916dup) c.4470dup (p.Ser1491Ter) c.5016dup (p.Ser1673Ter) c.4833dup (p.Ser1612Ter) c.4554dup (p.Ser1519Ter) c.3597dup (p.Ser1200Ter) c.3588dup (p.Ser1197Ter) | ClinVar dbSNP |
| 5 | g.37020661T>A | CA359487534 | NIPBL | c.5213T>A (p.Phe1738Tyr) c.1-43917T>A (n.1-43917T>A) c.4469T>A (p.Phe1490Tyr) c.5015T>A (p.Phe1672Tyr) c.4832T>A (p.Phe1611Tyr) c.4553T>A (p.Phe1518Tyr) c.3596T>A (p.Phe1199Tyr) c.3587T>A (p.Phe1196Tyr) | |
| 5 | g.37020661T>C | CA359487532 | NIPBL | c.5213T>C (p.Phe1738Ser) c.1-43917T>C (n.1-43917T>C) c.4469T>C (p.Phe1490Ser) c.5015T>C (p.Phe1672Ser) c.4832T>C (p.Phe1611Ser) c.4553T>C (p.Phe1518Ser) c.3596T>C (p.Phe1199Ser) c.3587T>C (p.Phe1196Ser) | |
| 5 | g.37020661T>G | CA359487533 | NIPBL | c.5213T>G (p.Phe1738Cys) c.1-43917T>G (n.1-43917T>G) c.4469T>G (p.Phe1490Cys) c.5015T>G (p.Phe1672Cys) c.4832T>G (p.Phe1611Cys) c.4553T>G (p.Phe1518Cys) c.3596T>G (p.Phe1199Cys) c.3587T>G (p.Phe1196Cys) | |
| 5 | g.37020662T>A | CA359487537 | NIPBL | c.5214T>A (p.Phe1738Leu) c.1-43916T>A (n.1-43916T>A) c.4470T>A (p.Phe1490Leu) c.5016T>A (p.Phe1672Leu) c.4833T>A (p.Phe1611Leu) c.4554T>A (p.Phe1518Leu) c.3597T>A (p.Phe1199Leu) c.3588T>A (p.Phe1196Leu) | |
| 5 | g.37020662T>C | CA443905127 | NIPBL | c.5214T>C (p.Phe1738=) c.1-43916T>C (n.1-43916T>C) c.4470T>C (p.Phe1490=) c.5016T>C (p.Phe1672=) c.4833T>C (p.Phe1611=) c.4554T>C (p.Phe1518=) c.3597T>C (p.Phe1199=) c.3588T>C (p.Phe1196=) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.37020662T>G | CA359487540 | NIPBL | c.5214T>G (p.Phe1738Leu) c.1-43916T>G (n.1-43916T>G) c.4470T>G (p.Phe1490Leu) c.5016T>G (p.Phe1672Leu) c.4833T>G (p.Phe1611Leu) c.4554T>G (p.Phe1518Leu) c.3597T>G (p.Phe1199Leu) c.3588T>G (p.Phe1196Leu) | |
| 5 | g.37020662T= | CA1539584143 | NIPBL | c.5214T= (p.Phe1738=) c.1-43916T= (n.1-43916T=) c.4470T= (p.Phe1490=) c.5016T= (p.Phe1672=) c.4833T= (p.Phe1611=) c.4554T= (p.Phe1518=) c.3597T= (p.Phe1199=) c.3588T= (p.Phe1196=) | |
| 5 | g.37020663A>C | CA359487545 | NIPBL | c.5215A>C (p.Ser1739Arg) c.1-43915A>C (n.1-43915A>C) c.4471A>C (p.Ser1491Arg) c.5017A>C (p.Ser1673Arg) c.4834A>C (p.Ser1612Arg) c.4555A>C (p.Ser1519Arg) c.3598A>C (p.Ser1200Arg) c.3589A>C (p.Ser1197Arg) | |
| 5 | g.37020663A>G | CA359487547 | NIPBL | c.5215A>G (p.Ser1739Gly) c.1-43915A>G (n.1-43915A>G) c.4471A>G (p.Ser1491Gly) c.5017A>G (p.Ser1673Gly) c.4834A>G (p.Ser1612Gly) c.4555A>G (p.Ser1519Gly) c.3598A>G (p.Ser1200Gly) c.3589A>G (p.Ser1197Gly) | |
| 5 | g.37020663A>T | CA359487549 | NIPBL | c.5215A>T (p.Ser1739Cys) c.1-43915A>T (n.1-43915A>T) c.4471A>T (p.Ser1491Cys) c.5017A>T (p.Ser1673Cys) c.4834A>T (p.Ser1612Cys) c.4555A>T (p.Ser1519Cys) c.3598A>T (p.Ser1200Cys) c.3589A>T (p.Ser1197Cys) | |
| 5 | g.37020664G>A | CA359487551 | NIPBL | c.5216G>A (p.Ser1739Asn) c.1-43914G>A (n.1-43914G>A) c.4472G>A (p.Ser1491Asn) c.5018G>A (p.Ser1673Asn) c.4835G>A (p.Ser1612Asn) c.4556G>A (p.Ser1519Asn) c.3599G>A (p.Ser1200Asn) c.3590G>A (p.Ser1197Asn) | COSMIC COSMIC |
| 5 | g.37020664G>C | CA359487552 | NIPBL | c.5216G>C (p.Ser1739Thr) c.1-43914G>C (n.1-43914G>C) c.4472G>C (p.Ser1491Thr) c.5018G>C (p.Ser1673Thr) c.4835G>C (p.Ser1612Thr) c.4556G>C (p.Ser1519Thr) c.3599G>C (p.Ser1200Thr) c.3590G>C (p.Ser1197Thr) | |
| 5 | g.37020664G>T | CA359487553 | NIPBL | c.5216G>T (p.Ser1739Ile) c.1-43914G>T (n.1-43914G>T) c.4472G>T (p.Ser1491Ile) c.5018G>T (p.Ser1673Ile) c.4835G>T (p.Ser1612Ile) c.4556G>T (p.Ser1519Ile) c.3599G>T (p.Ser1200Ile) c.3590G>T (p.Ser1197Ile) | |
| 5 | g.37020665C>A | CA359487554 | NIPBL | c.5217C>A (p.Ser1739Arg) c.1-43913C>A (n.1-43913C>A) c.4473C>A (p.Ser1491Arg) c.5019C>A (p.Ser1673Arg) c.4836C>A (p.Ser1612Arg) c.4557C>A (p.Ser1519Arg) c.3600C>A (p.Ser1200Arg) c.3591C>A (p.Ser1197Arg) | |
| 5 | g.37020665C>G | CA359487555 | NIPBL | c.5217C>G (p.Ser1739Arg) c.1-43913C>G (n.1-43913C>G) c.4473C>G (p.Ser1491Arg) c.5019C>G (p.Ser1673Arg) c.4836C>G (p.Ser1612Arg) c.4557C>G (p.Ser1519Arg) c.3600C>G (p.Ser1200Arg) c.3591C>G (p.Ser1197Arg) | |
| 5 | g.37020665C>T | CA443905132 | NIPBL | c.5217C>T (p.Ser1739=) c.1-43913C>T (n.1-43913C>T) c.4473C>T (p.Ser1491=) c.5019C>T (p.Ser1673=) c.4836C>T (p.Ser1612=) c.4557C>T (p.Ser1519=) c.3600C>T (p.Ser1200=) c.3591C>T (p.Ser1197=) | |
| 5 | g.37020666A>C | CA359487559 | NIPBL | c.5218A>C (p.Thr1740Pro) c.1-43912A>C (n.1-43912A>C) c.4474A>C (p.Thr1492Pro) c.5020A>C (p.Thr1674Pro) c.4837A>C (p.Thr1613Pro) c.4558A>C (p.Thr1520Pro) c.3601A>C (p.Thr1201Pro) c.3592A>C (p.Thr1198Pro) | |
| 5 | g.37020666A>G | CA359487557 | NIPBL | c.5218A>G (p.Thr1740Ala) c.1-43912A>G (n.1-43912A>G) c.4474A>G (p.Thr1492Ala) c.5020A>G (p.Thr1674Ala) c.4837A>G (p.Thr1613Ala) c.4558A>G (p.Thr1520Ala) c.3601A>G (p.Thr1201Ala) c.3592A>G (p.Thr1198Ala) | |
| 5 | g.37020666A>T | CA359487556 | NIPBL | c.5218A>T (p.Thr1740Ser) c.1-43912A>T (n.1-43912A>T) c.4474A>T (p.Thr1492Ser) c.5020A>T (p.Thr1674Ser) c.4837A>T (p.Thr1613Ser) c.4558A>T (p.Thr1520Ser) c.3601A>T (p.Thr1201Ser) c.3592A>T (p.Thr1198Ser) | |
| 5 | g.37020667C>A | CA359487560 | NIPBL | c.5219C>A (p.Thr1740Lys) c.1-43911C>A (n.1-43911C>A) c.4475C>A (p.Thr1492Lys) c.5021C>A (p.Thr1674Lys) c.4838C>A (p.Thr1613Lys) c.4559C>A (p.Thr1520Lys) c.3602C>A (p.Thr1201Lys) c.3593C>A (p.Thr1198Lys) | |
| 5 | g.37020667C>G | CA359487561 | NIPBL | c.5219C>G (p.Thr1740Arg) c.1-43911C>G (n.1-43911C>G) c.4475C>G (p.Thr1492Arg) c.5021C>G (p.Thr1674Arg) c.4838C>G (p.Thr1613Arg) c.4559C>G (p.Thr1520Arg) c.3602C>G (p.Thr1201Arg) c.3593C>G (p.Thr1198Arg) | |
| 5 | g.37020667C>T | CA359487562 | NIPBL | c.5219C>T (p.Thr1740Ile) c.1-43911C>T (n.1-43911C>T) c.4475C>T (p.Thr1492Ile) c.5021C>T (p.Thr1674Ile) c.4838C>T (p.Thr1613Ile) c.4559C>T (p.Thr1520Ile) c.3602C>T (p.Thr1201Ile) c.3593C>T (p.Thr1198Ile) | |
| 5 | g.37020668del | CA2695204349 | NIPBL | c.5220del (p.Leu1741Ter) c.1-43910del (n.1-43910del) c.4476del (p.Leu1493Ter) c.5022del (p.Leu1675Ter) c.4839del (p.Leu1614Ter) c.4560del (p.Leu1521Ter) c.3603del (p.Leu1202Ter) c.3594del (p.Leu1199Ter) | |
| 5 | g.37020668A>C | CA443905134 | NIPBL | c.5220A>C (p.Thr1740=) c.1-43910A>C (n.1-43910A>C) c.4476A>C (p.Thr1492=) c.5022A>C (p.Thr1674=) c.4839A>C (p.Thr1613=) c.4560A>C (p.Thr1520=) c.3603A>C (p.Thr1201=) c.3594A>C (p.Thr1198=) | |
| 5 | g.37020668A>G | CA443905135 | NIPBL | c.5220A>G (p.Thr1740=) c.1-43910A>G (n.1-43910A>G) c.4476A>G (p.Thr1492=) c.5022A>G (p.Thr1674=) c.4839A>G (p.Thr1613=) c.4560A>G (p.Thr1520=) c.3603A>G (p.Thr1201=) c.3594A>G (p.Thr1198=) | gnomAD v4 |
| 5 | g.37020668A>T | CA443905136 | NIPBL | c.5220A>T (p.Thr1740=) c.1-43910A>T (n.1-43910A>T) c.4476A>T (p.Thr1492=) c.5022A>T (p.Thr1674=) c.4839A>T (p.Thr1613=) c.4560A>T (p.Thr1520=) c.3603A>T (p.Thr1201=) c.3594A>T (p.Thr1198=) | |
| 5 | g.37020669T>A | CA359487563 | NIPBL | c.5221T>A (p.Leu1741Ile) c.1-43909T>A (n.1-43909T>A) c.4477T>A (p.Leu1493Ile) c.5023T>A (p.Leu1675Ile) c.4840T>A (p.Leu1614Ile) c.4561T>A (p.Leu1521Ile) c.3604T>A (p.Leu1202Ile) c.3595T>A (p.Leu1199Ile) | |
| 5 | g.37020669T>C | CA443905137 | NIPBL | c.5221T>C (p.Leu1741=) c.1-43909T>C (n.1-43909T>C) c.4477T>C (p.Leu1493=) c.5023T>C (p.Leu1675=) c.4840T>C (p.Leu1614=) c.4561T>C (p.Leu1521=) c.3604T>C (p.Leu1202=) c.3595T>C (p.Leu1199=) | |
| 5 | g.37020669T>G | CA359487564 | NIPBL | c.5221T>G (p.Leu1741Val) c.1-43909T>G (n.1-43909T>G) c.4477T>G (p.Leu1493Val) c.5023T>G (p.Leu1675Val) c.4840T>G (p.Leu1614Val) c.4561T>G (p.Leu1521Val) c.3604T>G (p.Leu1202Val) c.3595T>G (p.Leu1199Val) | |
| 5 | g.37020670T>A | CA359487566 | NIPBL | c.5222T>A (p.Leu1741Ter) c.1-43908T>A (n.1-43908T>A) c.4478T>A (p.Leu1493Ter) c.5024T>A (p.Leu1675Ter) c.4841T>A (p.Leu1614Ter) c.4562T>A (p.Leu1521Ter) c.3605T>A (p.Leu1202Ter) c.3596T>A (p.Leu1199Ter) | |
| 5 | g.37020670T>C | CA359487568 | NIPBL | c.5222T>C (p.Leu1741Ser) c.1-43908T>C (n.1-43908T>C) c.4478T>C (p.Leu1493Ser) c.5024T>C (p.Leu1675Ser) c.4841T>C (p.Leu1614Ser) c.4562T>C (p.Leu1521Ser) c.3605T>C (p.Leu1202Ser) c.3596T>C (p.Leu1199Ser) | |
| 5 | g.37020670T>G | CA359487572 | NIPBL | c.5222T>G (p.Leu1741Ter) c.1-43908T>G (n.1-43908T>G) c.4478T>G (p.Leu1493Ter) c.5024T>G (p.Leu1675Ter) c.4841T>G (p.Leu1614Ter) c.4562T>G (p.Leu1521Ter) c.3605T>G (p.Leu1202Ter) c.3596T>G (p.Leu1199Ter) | |
| 5 | g.37020673_37020677del | CA2695204350 | NIPBL | c.5225_5225+4del c.1-43905_1-43901del (n.1-43905_1-43901del) c.4481_4481+4del c.5027_5027+4del c.4844_4844+4del c.4565_4565+4del c.3608_3608+4del c.3599_3599+4del | |
| 5 | g.37020671A>C | CA359487575 | NIPBL | c.5223A>C (p.Leu1741Phe) c.1-43907A>C (n.1-43907A>C) c.4479A>C (p.Leu1493Phe) c.5025A>C (p.Leu1675Phe) c.4842A>C (p.Leu1614Phe) c.4563A>C (p.Leu1521Phe) c.3606A>C (p.Leu1202Phe) c.3597A>C (p.Leu1199Phe) | |
| 5 | g.37020671A>G | CA443905138 | NIPBL | c.5223A>G (p.Leu1741=) c.1-43907A>G (n.1-43907A>G) c.4479A>G (p.Leu1493=) c.5025A>G (p.Leu1675=) c.4842A>G (p.Leu1614=) c.4563A>G (p.Leu1521=) c.3606A>G (p.Leu1202=) c.3597A>G (p.Leu1199=) | |
| 5 | g.37020671A>T | CA359487579 | NIPBL | c.5223A>T (p.Leu1741Phe) c.1-43907A>T (n.1-43907A>T) c.4479A>T (p.Leu1493Phe) c.5025A>T (p.Leu1675Phe) c.4842A>T (p.Leu1614Phe) c.4563A>T (p.Leu1521Phe) c.3606A>T (p.Leu1202Phe) c.3597A>T (p.Leu1199Phe) | |
| 5 | g.37020672A>C | CA359487582 | NIPBL | c.5224A>C (p.Lys1742Gln) c.1-43906A>C (n.1-43906A>C) c.4480A>C (p.Lys1494Gln) c.5026A>C (p.Lys1676Gln) c.4843A>C (p.Lys1615Gln) c.4564A>C (p.Lys1522Gln) c.3607A>C (p.Lys1203Gln) c.3598A>C (p.Lys1200Gln) | |
| 5 | g.37020672A>G | CA359487584 | NIPBL | c.5224A>G (p.Lys1742Glu) c.1-43906A>G (n.1-43906A>G) c.4480A>G (p.Lys1494Glu) c.5026A>G (p.Lys1676Glu) c.4843A>G (p.Lys1615Glu) c.4564A>G (p.Lys1522Glu) c.3607A>G (p.Lys1203Glu) c.3598A>G (p.Lys1200Glu) | |
| 5 | g.37020672A>T | CA359487586 | NIPBL | c.5224A>T (p.Lys1742Ter) c.1-43906A>T (n.1-43906A>T) c.4480A>T (p.Lys1494Ter) c.5026A>T (p.Lys1676Ter) c.4843A>T (p.Lys1615Ter) c.4564A>T (p.Lys1522Ter) c.3607A>T (p.Lys1203Ter) c.3598A>T (p.Lys1200Ter) | |
| 5 | g.37020675_37020678del | CA2580617960 | NIPBL | c.5225+2_5225+5del c.1-43903_1-43900del (n.1-43903_1-43900del) c.4481+2_4481+5del c.5027+2_5027+5del c.4844+2_4844+5del c.4565+2_4565+5del c.3608+2_3608+5del c.3599+2_3599+5del | ClinVar |
| 5 | g.37020673_37020679del | CA2695196527 | NIPBL | c.5225_5225+6del c.1-43905_1-43899del (n.1-43905_1-43899del) c.4481_4481+6del c.5027_5027+6del c.4844_4844+6del c.4565_4565+6del c.3608_3608+6del c.3599_3599+6del | |
| 5 | g.37020673A>C | CA359487601 | NIPBL | c.5225A>C (p.Lys1742Thr) c.1-43905A>C (n.1-43905A>C) c.4481A>C (p.Lys1494Thr) c.5027A>C (p.Lys1676Thr) c.4844A>C (p.Lys1615Thr) c.4565A>C (p.Lys1522Thr) c.3608A>C (p.Lys1203Thr) c.3599A>C (p.Lys1200Thr) | |
| 5 | g.37020673A>G | CA359487597 | NIPBL | c.5225A>G (p.Lys1742Arg) c.1-43905A>G (n.1-43905A>G) c.4481A>G (p.Lys1494Arg) c.5027A>G (p.Lys1676Arg) c.4844A>G (p.Lys1615Arg) c.4565A>G (p.Lys1522Arg) c.3608A>G (p.Lys1203Arg) c.3599A>G (p.Lys1200Arg) | ClinVar dbSNP |
| 5 | g.37020673A>T | CA359487600 | NIPBL | c.5225A>T (p.Lys1742Met) c.1-43905A>T (n.1-43905A>T) c.4481A>T (p.Lys1494Met) c.5027A>T (p.Lys1676Met) c.4844A>T (p.Lys1615Met) c.4565A>T (p.Lys1522Met) c.3608A>T (p.Lys1203Met) c.3599A>T (p.Lys1200Met) | |
| 5 | g.37020674G>A | CA359487603 | NIPBL | c.5225+1G>A (n.5225+1G>A) c.1-43904G>A (n.1-43904G>A) c.4481+1G>A (n.4481+1G>A) c.5027+1G>A (n.5027+1G>A) c.4844+1G>A (n.4844+1G>A) c.4565+1G>A (n.4565+1G>A) c.3608+1G>A (n.3608+1G>A) c.3599+1G>A (n.3599+1G>A) | |
| 5 | g.37020674G>C | CA359487604 | NIPBL | c.5225+1G>C (n.5225+1G>C) c.1-43904G>C (n.1-43904G>C) c.4481+1G>C (n.4481+1G>C) c.5027+1G>C (n.5027+1G>C) c.4844+1G>C (n.4844+1G>C) c.4565+1G>C (n.4565+1G>C) c.3608+1G>C (n.3608+1G>C) c.3599+1G>C (n.3599+1G>C) | |
| 5 | g.37020674G= | CA1539584154 | NIPBL | c.5225+1G= (n.5225+1G=) c.1-43904G= (n.1-43904G=) c.4481+1G= (n.4481+1G=) c.5027+1G= (n.5027+1G=) c.4844+1G= (n.4844+1G=) c.4565+1G= (n.4565+1G=) c.3608+1G= (n.3608+1G=) c.3599+1G= (n.3599+1G=) | |
| 5 | g.37020674G>T | CA359487605 | NIPBL | c.5225+1G>T (n.5225+1G>T) c.1-43904G>T (n.1-43904G>T) c.4481+1G>T (n.4481+1G>T) c.5027+1G>T (n.5027+1G>T) c.4844+1G>T (n.4844+1G>T) c.4565+1G>T (n.4565+1G>T) c.3608+1G>T (n.3608+1G>T) c.3599+1G>T (n.3599+1G>T) | |
| 5 | g.37020675T>A | CA359487611 | NIPBL | c.5225+2T>A (n.5225+2T>A) c.1-43903T>A (n.1-43903T>A) c.4481+2T>A (n.4481+2T>A) c.5027+2T>A (n.5027+2T>A) c.4844+2T>A (n.4844+2T>A) c.4565+2T>A (n.4565+2T>A) c.3608+2T>A (n.3608+2T>A) c.3599+2T>A (n.3599+2T>A) | |
| 5 | g.37020675T>C | CA359487612 | NIPBL | c.5225+2T>C (n.5225+2T>C) c.1-43903T>C (n.1-43903T>C) c.4481+2T>C (n.4481+2T>C) c.5027+2T>C (n.5027+2T>C) c.4844+2T>C (n.4844+2T>C) c.4565+2T>C (n.4565+2T>C) c.3608+2T>C (n.3608+2T>C) c.3599+2T>C (n.3599+2T>C) | |
| 5 | g.37020675T>G | CA359487613 | NIPBL | c.5225+2T>G (n.5225+2T>G) c.1-43903T>G (n.1-43903T>G) c.4481+2T>G (n.4481+2T>G) c.5027+2T>G (n.5027+2T>G) c.4844+2T>G (n.4844+2T>G) c.4565+2T>G (n.4565+2T>G) c.3608+2T>G (n.3608+2T>G) c.3599+2T>G (n.3599+2T>G) | ClinVar |
| 5 | g.37020675dup | CA1539584157 | NIPBL | c.5225+2dup (n.5225+2dup) c.1-43903dup (n.1-43903dup) c.4481+2dup (n.4481+2dup) c.5027+2dup (n.5027+2dup) c.4844+2dup (n.4844+2dup) c.4565+2dup (n.4565+2dup) c.3608+2dup (n.3608+2dup) c.3599+2dup (n.3599+2dup) | dbSNP |
| 5 | g.37020676A>C | CA2695204351 | NIPBL | c.5225+3A>C (n.5225+3A>C) c.1-43902A>C (n.1-43902A>C) c.4481+3A>C (n.4481+3A>C) c.5027+3A>C (n.5027+3A>C) c.4844+3A>C (n.4844+3A>C) c.4565+3A>C (n.4565+3A>C) c.3608+3A>C (n.3608+3A>C) c.3599+3A>C (n.3599+3A>C) | |
| 5 | g.37020680T>A | CA3236716 | NIPBL | c.5225+7T>A (n.5225+7T>A) c.1-43898T>A (n.1-43898T>A) c.4481+7T>A (n.4481+7T>A) c.5027+7T>A (n.5027+7T>A) c.4844+7T>A (n.4844+7T>A) c.4565+7T>A (n.4565+7T>A) c.3608+7T>A (n.3608+7T>A) c.3599+7T>A (n.3599+7T>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.37020680T>C | CA1539584164 | NIPBL | c.5225+7T>C (n.5225+7T>C) c.1-43898T>C (n.1-43898T>C) c.4481+7T>C (n.4481+7T>C) c.5027+7T>C (n.5027+7T>C) c.4844+7T>C (n.4844+7T>C) c.4565+7T>C (n.4565+7T>C) c.3608+7T>C (n.3608+7T>C) c.3599+7T>C (n.3599+7T>C) | dbSNP |
| 5 | g.37020680T>G | CA2507259126 | NIPBL | c.5225+7T>G (n.5225+7T>G) c.1-43898T>G (n.1-43898T>G) c.4481+7T>G (n.4481+7T>G) c.5027+7T>G (n.5027+7T>G) c.4844+7T>G (n.4844+7T>G) c.4565+7T>G (n.4565+7T>G) c.3608+7T>G (n.3608+7T>G) c.3599+7T>G (n.3599+7T>G) | gnomAD v4 |
| 5 | g.37020680T= | CA1539584162 | NIPBL | c.5225+7T= (n.5225+7T=) c.1-43898T= (n.1-43898T=) c.4481+7T= (n.4481+7T=) c.5027+7T= (n.5027+7T=) c.4844+7T= (n.4844+7T=) c.4565+7T= (n.4565+7T=) c.3608+7T= (n.3608+7T=) c.3599+7T= (n.3599+7T=) | |
| 5 | g.37020683A= | CA1539584168 | NIPBL | c.5225+10A= (n.5225+10A=) c.1-43895A= (n.1-43895A=) c.4481+10A= (n.4481+10A=) c.5027+10A= (n.5027+10A=) c.4844+10A= (n.4844+10A=) c.4565+10A= (n.4565+10A=) c.3608+10A= (n.3608+10A=) c.3599+10A= (n.3599+10A=) | |
| 5 | g.37020683A>T | CA559295224 | NIPBL | c.5225+10A>T (n.5225+10A>T) c.1-43895A>T (n.1-43895A>T) c.4481+10A>T (n.4481+10A>T) c.5027+10A>T (n.5027+10A>T) c.4844+10A>T (n.4844+10A>T) c.4565+10A>T (n.4565+10A>T) c.3608+10A>T (n.3608+10A>T) c.3599+10A>T (n.3599+10A>T) | dbSNP gnomAD v2 |
| 5 | g.37020684A>G | CA2673553390 | NIPBL | c.5225+11A>G (n.5225+11A>G) c.1-43894A>G (n.1-43894A>G) c.4481+11A>G (n.4481+11A>G) c.5027+11A>G (n.5027+11A>G) c.4844+11A>G (n.4844+11A>G) c.4565+11A>G (n.4565+11A>G) c.3608+11A>G (n.3608+11A>G) c.3599+11A>G (n.3599+11A>G) | gnomAD v4 |
| 5 | g.37020685G>A | CA2508304324 | NIPBL | c.5225+12G>A (n.5225+12G>A) c.1-43893G>A (n.1-43893G>A) c.4481+12G>A (n.4481+12G>A) c.5027+12G>A (n.5027+12G>A) c.4844+12G>A (n.4844+12G>A) c.4565+12G>A (n.4565+12G>A) c.3608+12G>A (n.3608+12G>A) c.3599+12G>A (n.3599+12G>A) | |
| 5 | g.37020685G>C | CA2673553392 | NIPBL | c.5225+12G>C (n.5225+12G>C) c.1-43893G>C (n.1-43893G>C) c.4481+12G>C (n.4481+12G>C) c.5027+12G>C (n.5027+12G>C) c.4844+12G>C (n.4844+12G>C) c.4565+12G>C (n.4565+12G>C) c.3608+12G>C (n.3608+12G>C) c.3599+12G>C (n.3599+12G>C) | gnomAD v4 |
| 5 | g.37020685G= | CA1539584170 | NIPBL | c.5225+12G= (n.5225+12G=) c.1-43893G= (n.1-43893G=) c.4481+12G= (n.4481+12G=) c.5027+12G= (n.5027+12G=) c.4844+12G= (n.4844+12G=) c.4565+12G= (n.4565+12G=) c.3608+12G= (n.3608+12G=) c.3599+12G= (n.3599+12G=) | |
| 5 | g.37020685G>T | CA559295225 | NIPBL | c.5225+12G>T (n.5225+12G>T) c.1-43893G>T (n.1-43893G>T) c.4481+12G>T (n.4481+12G>T) c.5027+12G>T (n.5027+12G>T) c.4844+12G>T (n.4844+12G>T) c.4565+12G>T (n.4565+12G>T) c.3608+12G>T (n.3608+12G>T) c.3599+12G>T (n.3599+12G>T) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.37020686G>A | CA172715 | NIPBL | c.5225+13G>A (n.5225+13G>A) c.1-43892G>A (n.1-43892G>A) c.4481+13G>A (n.4481+13G>A) c.5027+13G>A (n.5027+13G>A) c.4844+13G>A (n.4844+13G>A) c.4565+13G>A (n.4565+13G>A) c.3608+13G>A (n.3608+13G>A) c.3599+13G>A (n.3599+13G>A) | ClinVar dbSNP |
| 5 | g.37020686G= | CA1539584173 | NIPBL | c.5225+13G= (n.5225+13G=) c.1-43892G= (n.1-43892G=) c.4481+13G= (n.4481+13G=) c.5027+13G= (n.5027+13G=) c.4844+13G= (n.4844+13G=) c.4565+13G= (n.4565+13G=) c.3608+13G= (n.3608+13G=) c.3599+13G= (n.3599+13G=) |